Reference table (All references)
References |
| PubMed Id | ||||
| Abaji M, Mignon-Ravix C, Gorokhova S, Cacciagli P, Mortreux J, Molinari F, Chabrol B, Sigaudy S, Villard L, Riccardi F. TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype. J Med Genet. 2023 Oct;60(10):1021-1025. doi: 10.1136/jmg-2022-108677. Epub 2023 Feb 27. PMID: 36849228. | ||||||
| Abalkhail, H.; Mitchell, J.; Habgood, J.; Orrell, R.; de Belleroche, J. : A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. Am. J. Hum. Genet. 73: 383-389, 2003. | ||||||
| Abath Neto O, Heise CO, Moreno CA, Estephan EP, Mesrob L, Lechner D, Boland A, Deleuze JF, Oliveira AS, Reed UC, Biancalana V, Laporte J, Zanoteli E. Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation. Can J Neurol Sci. 2017 Jan;44(1):125-127. doi: 10.1017/cjn.2016.322. Epub 2016 Oct 17. PMID: 27748205 | ||||||
| Abath Neto OL, Medne L, Donkervoort S, et al. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase. Brain 2021 Sep 28:awab275. doi: 10.1093/brain/awab275 | ||||||
| Abati E, Magri S, Meneri M, Manenti G, Velardo D, Balistreri F, Pisciotta C, Saveri P, Bresolin N, Comi GP, Ronchi D, Pareyson D, Taroni F, Corti S. Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations. Ann Clin Transl Neurol. 2021 May;8(5):1158-1164. doi: 10.1002/acn3.51364. Epub 2021 May 4. PMID: 33943041; PMCID: PMC8108422. | ||||||
| Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001 Jan 26;104(2):217-31. | ||||||
| Abbott, G. W.; Sesti, F.; Splawsky, I.; Buck, M. E.; Lehmann, M. H.; Timothy, K. W.; Keating, M. T.; Goldstein, S. A. N. : MiRP1 forms I(kr) potassium channels with HERG and is associated with cardiac arrhythmia. Cell 97: 175-187, 1999. | ||||||
| Abel, A.; Fonknechten, N.; Hofer, A.; Durr, A.; Cruaud, C.; Voit, T.; Weissenbach, J.; Brice, A.; Klimpe, S.; Auburger, G.; Hazan, J. : Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 5: 239-243, 2004. | ||||||
| Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011 | ||||||
| Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011. | ||||||
| Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nothen, M. M., Munnich, A., Strom, T. M., Reis, A., Colleaux, L. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88: 788-795, 2011. | ||||||
| Adelman, J. P.; Bond, C. T.; Pessia, M.; Maylie, J. : Episodic ataxia results from voltage-dependent potassium channels with altered functions. Neuron 15: 1449-1454, 1995. | ||||||
| Agolini E, Cherchi C, Bellacchio E, et al. Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. Clin Genet. 2020;97(4):649-654. doi:10.1111/cge.13691 | ||||||
| Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline Myopathy with Minicores Caused by Mutation of the CFL2 Gene Encoding the Skeletal Muscle Actin-Binding Protein, Cofilin-2. Am J Hum Genet. 2007 Jan;80(1):162-7. | ||||||
| Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Halilo?lu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 7;95(2):218-26. doi: 10.1016/j.ajhg.2014.07.004. Epub 2014 Jul 31. | ||||||
| Agrawal, P. B., Strickland, C. D., Midgett, C., Morales, A., Newburger, D. E., Poulos, M. A., Tomczak, K. K., Ryan, M. M., Iannaccone, S. T., Crawford, T. O., Laing, N. G., Beggs, A. H. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann. Neurol. 56: 86-96, 2004. [PubMed: 15236405, related citations] | ||||||
| Ahlberg, G.; von Tell, D.; Borg, K.; Edstrom, L.; Anvret, M. : Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann. Neurol. 46: 399-404, 1999. | ||||||
| Ahmad F, Li D, Karibe A, Gonzalez O, Tapscott T, Hill R, Weilbaecher D, Blackie P, Furey M, Gardner M, Bachinski LL, Roberts R. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 1998 Dec 22-29;98(25):2791-5. | ||||||
| Ahmed, M. Y., Al-Khayat, A., Al-Murshedi, F., Al-Futaisi, A., Chioza, B. A., Fernandez-Murray, J. P., Self, J. E., Salter, C. G., Harlalka, G. V., Rawlins, L. E., Al-Zuhaibi, S., Al-Azri, F., and 10 others. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain 140: 547-554, 2017. [PubMed: 28052917, | ||||||
| Ahrens-Nicklas, R. C., Pappas, C. T., Farman, G. P., Mayfield, R. M., Larrinaga, T. M., Medne, L., Ritter, A., Krantz, I. D., Murali, C., Lin, K. Y., Berger, J. H., Yum, S. W., Carreon, C. K., Gregorio, C. C. Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: a novel mechanism of neonatal dilated cardiomyopathy. Sci. Adv. 5: eaax2066, 2019 | ||||||
| Ajroud-Driss S, Fecto F, Ajroud K, Lalani I, Calvo SE, Mootha VK, Deng HX, Siddique N, Tahmoush AJ, Heiman-Patterson TD, Siddique T. Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy. Neurogenetics. 2014 Sep 6. | ||||||
| Akawi, N., McRae, J., Ansari, M., Balasubramanian, M., Blyth, M., Brady, A. F., Clayton, S., Cole, T., Deshpande, C., Fitzgerald, T. W., Foulds, N., Francis, R., and 30 others. Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genet. 47: 1363-1369, 2015. | ||||||
| Al-Chalabi, A., Andersen, P. M., Nilsson, P., Chioza, B., Andersson, J. L., Russ, C., Shaw, C. E., Powell, J. F., Leigh, P. N. Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis. Hum. Molec. Genet. 8: 157-164, 1999. | ||||||
| Al-Saif, A., Al-Mohanna, F., Bohlega, S. A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. Ann. Neurol. 70: 913-919, 2011. | ||||||
| Al-Saif, A., Bohlega, S., Al-Mohanna, F. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann. Neurol. 72: 510-516, 2012. | ||||||
| Al-Tahan S, Weiss L, Yu H, Tang S, Saporta M, Vihola A, Mozaffar T, Udd B, Kimonis V. New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. Neurol Genet. 2019 Jul 10;5(4):e349. doi: 10.1212/NXG.0000000000000349. eCollection 2019 Aug. | ||||||
| Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., Chand, P., Koul, R., Jacob, P. C., Gururaj, A., Sztriha, L., Parrado, A., Van Broeckhoven, C., Bayoumi, R. A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66: 1230-1234, 2006 | ||||||
| Al-Yahyaee, S., Al-Gazali, L. I., De Jonghe, P., Al-Barwany, H., Al-Kindi, M., De Vriendt, E., Chand, P., Koul, R., Jacob, P. C., Gururaj, A., Sztriha, L., Parrado, A., Van Broeckhoven, C., Bayoumi, R. A. A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy. Neurology 66: 1230-1234, 2006. | ||||||
| Alazami, A. M., Adly, N., Al Dhalaan, H., Alkuraya, F. S. A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18). Neurogenetics 12: 333-336, 2011. | ||||||
| Albulym, O. M., Kennerson, M. L., Harms, M. B., Drew, A. P., Siddell, A. H., Auer-Grumbach, M., Pestronk, A., Connolly, A., Baloh, R. H., Zuchner, S., Reddel, S. W., Nicholson, G. A. MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs. Ann. Neurol. 79: 419-427, 2016. | ||||||
| Alkhunaizi E, Shuster S, Shannon P, Siu VM, Darilek S, Mohila CA, Boissel S, Ellezam B, Fallet-Bianco C, Laberge AM, Zandberg J, Injeyan M, Hazrati LN, Hamdan F, Chitayat D. Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum. Am J Med Genet A. 2019 Mar;179(3):386-396. doi: 10.1002/ajmg.a.61025. Epub 2019 Jan 16. PubMed PMID: 30652412. | ||||||
| Allamand V, Sunada Y, Salih MA, Straub V, Ozo CO, Al-Turaiki MH, Akbar M, Kolo T, Colognato H, Zhang X, Sorokin LM, Yurchenco PD, Tryggvason K, Campbell KP. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Hum Mol Genet. 1997 May;6(5):747-52. | ||||||
| Almomani, R., Verhagen, J. M. A., Herkert, J. C., Brosens, E., van Spaendonck-Zwarts, K. Y., Asimaki, A., van der Zwaag, P. A., Frohn-Mulder, I. M. E., Bertoli-Avella, A. M., Boven, L. G., van Slegtenhorst, M. A., van der Smagt, J. J., and 13 others. Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J. Am. Coll. Cardiol. 67: 515-525, 2016. | ||||||
| Alston, C. L., Compton, A. G., Formosa, L. E., Strecker, V., Olahova, M., Haack, T. B., Smet, J., Stouffs, K., Diakumis, P., Ciara, E., Cassiman, D., Romain, N., and 19 others. Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype. Am. J. Hum. Genet. 99: 217-227, 2016. [PubMed: 27374774, | ||||||
| Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissi²®re A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Mart²≠n MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. Epub 2007 Dec 24. | ||||||
| Andersen, P. M.; Nilsson, P.; Ala-Hurula, V.; Keranen, M.-L.; Tarvainen, I.; Haltia, T.; Nilsson, L.; Binzer, M.; Forsgren, L.; Marklund, S. L. : Amyotrophic lateral sclerosis associated with homozygosity for an asp90-to-ala mutation in CuZn-superoxide dismutase. Nature Genet. 10: 61-66, 1995. | ||||||
| Angelini C, Marozzo R, Pinzan E, Pegoraro V, Molnar MJ, Torella A, Nigro V. A new family with transportinopathy: increased clinical heterogeneity. Ther Adv Neurol Disord. 2019 Jun 9;12:1756286419850433. doi: 10.1177/1756286419850433. eCollection 2019. PubMed PMID: 31217819; PubMed Central PMCID: PMC6558532. | ||||||
| Anheim M, Lagier-Tourenne C, Stevanin G, Fleury M, Durr A, Namer IJ, Denora P, Brice A, Mandel JL, Koenig M and Tranchant C. SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009;256:104-8. | ||||||
| Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M., Delaunoy, J. P., Fritsch, M., Arning, L., Synofzik, M., Schols, L., Sequeiros, J., and 23 others. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain 132: 2688-2698, 2009. | ||||||
| Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. Epub 2003 Apr 10. | ||||||
| Antonicka, H.; Mattman, A.; Carlson, C. G.; Glerum, D. M.; Hoffbuhr, K. C.; Leary, S. C.; Kennaway, N. G.; Shoubridge, E. A. Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am. J. Hum. Genet. 72: 101-114, 2003. | ||||||
| Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. Epub 2005 Nov 13. | ||||||
| Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B, Gelber P, Bonaros EP Jr, Burashnikov E, Wu Y, Sargent JD, Schickel S, Oberheiden R, Bhatia A, Hsu LF, Ha²Øssaguerre M, Schimpf R, Borggrefe M, Wolpert C. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 Jan 30;115(4):442-9. Epub 2007 Jan 15. | ||||||
| Aoyama, T.; Souri, M.; Ueno, I.; Kamijo, T.; Yamaguchi, S.; Rhead, W. J.; Tanaka, K.; Hashimoto, T. : Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am. J. Hum. Genet. 57: 273-283, 1995. | ||||||
| Aoyama, T.; Uchida, Y.; Kelley, R. I.; Marble, M.; Hofman, K.; Tonsgard, J. H.; Rhead, W. J.; Hashimoto, T. : A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys. Res. Commun. 191: 1369-1372, 1993. | ||||||
| Ardicli D, Sarkozy A, Zaharieva I, Deshpande C, Bodi I, Siddiqui A, U-King-Im JM, Selfe A, Phadke R, Jungbluth H, Muntoni F. A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscul Disord. 2019 Jun;29(6):448-455. doi: 10.1016/j.nmd.2019.03.011. Epub 2019 Mar 27. | ||||||
| Arimura T, Bos JM, Sato A, Kubo T, Okamoto H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, Towbin JA, Ackerman MJ, Kimura A. Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009 Jul 21;54(4):334-42. | ||||||
| Arimura, T.; Hayashi, T.; Terada, H.; Lee, S.-Y.; Zhou, Q.; Takahashi, M.; Ueda, K.; Nouchi, T.; Hohda, S.; Shibutani, M.; Hirose, M.; Chen, J.; Park, J.-E.; Yasunami, M.; Hayashi, H.; Kimura, A. : A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J. Biol. Chem. 279: 6746-6752, 2004. | ||||||
| Arndt, A.-K., Schafer, S., Drenckhahn, J.-D., Sabeh, M. K., Plovie, E. R., Caliebe, A., Klopocki, E., Musso, G., Werdich, A. A., Kalwa, H., Heinig, M., Padera, R. F., and 13 others. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am. J. Hum. Genet. 93: 67-77, 2013. | ||||||
| Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet. 2007 Nov;81(5):964-73. Epub 2007 Sep 28. | ||||||
| Aslanidis, C.; Jansen, G.; Amemiya, C.; Shutler, G.; Mahadevan, T.; Tsilfidis, C.; Chen, C.; Alleman, J.; Wormskamp, N. G. M.; Vooijs, M.; Buxton, J.; Johnson, K.; Smeets, H. J. M.; Lennon, G. G.; Carrano, A. V.; Korneluk, R. G.; Wieringa, B.; de Jong, P. J. : Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548-551, 1992. | ||||||
| Aspit, L., Levitas, A., Etzion, S., Krymko, H., Slanovic, L., Zarivach, R., Etzion, Y., Parvari, R. CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy. J. Med. Genet. 56: 228-235, 2019.[PubMed: 30518548] | ||||||
| Assoum, M., Salih, M. A., Drouot, N., H'Mida-Ben Brahim, D., Lagier-Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., Koenig, M. Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia. Brain 133: 2439-2447, 2010. | ||||||
| Atkinson D., Nikodinovic Glumac J., Asselbergh B., Ermanoska B., Blocquel D., Steiner R., et al. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology. 2017 Feb 7;88(6):533-542. | ||||||
| Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z and Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009;18:3462-9. | ||||||
| Auburger G, Diaz GO, Capote RF, Sanchez SG, Perez MP, del Cueto ME, Meneses MG, Farrall M, Williamson R, Chamberlain S, et al. Autosomal dominant ataxia: genetic evidence for locus heterogeneity from a Cuban founder-effect population. Am J Hum Genet. 1990 Jun;46(6):1163-77. | ||||||
| Auer-Grumbach M, Weger M, Fink-Puches R, Papi? L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain. 2011 Jun;134(Pt 6):1839-52. Epub 2011 May 15 | ||||||
| Auer-Grumbach, M., Olschewski, A., Papic, L., Kremer, H., McEntagart, M. E., Uhrig, S., Fischer, C., Frohlich, E., Balint, Z., Tang, B., Strohmaier, H., Lochmuller, H., and 13 others Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genet. 42: 160-164, 2010. | ||||||
| Auer-Grumbach, M.; Strasser-Fuchs, S.; Robl, T.; Windpassinger, C.; Wagner, K. : Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 61: 1435-1437, 2003. Note: Erratum: Neurology 62: 678 only, 2004. | ||||||
| Awad, M. M.; Dalal, D.; Cho, E.; Amat-Alarcon, N.; James, C.; Tichnell, C.; Tucker, A.; Russell, S. D.; Bluemke, D. A.; Dietz, H. C.; Calkins, H.; Judge, D. P. : DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am. J. Hum. Genet. 79: 136-142, 2006. | ||||||
| Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, et al. Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet. 1993 Sep;2(9):1423-8. | ||||||
| Azzedine H, Bolino A, Ta²Øeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet. 2003 May;72(5):1141-53. Epub 2003 Apr 8. | ||||||
| Azzedine, H., Zavadakova, P., Plante-Bordeneuve, V., Vaz Pato, M., Pinto, N., Bartesaghi, L., Zenker, J., Poirot, O., Bernard-Marissal, N., Arnaud Gouttenoire, E., Cartoni, R., Title, A., and 18 others. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum. Molec. Genet. 22: 4224-4232, 2013. | ||||||
| Bakalkin, G., Watanabe, H., Jezierska, J., Depoorter, C., Verschuuren-Bemelmans, C., Bazov, I., Artemenko, K. A., Yakovleva, T., Dooijes, D., Van de Warrenburg, B. P. C., Zubarev, R. A., Kremer, B., Knapp, P. E., Hauser, K. F., Wijmenga, C., Nyberg, F., Sinke, R. J., Verbeek, D. S. Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. Am. J. Hum. Genet. 87: 593-603, 2010. Note: Erratum: Am. J. Hum. Genet. 87: 736 only, 2010. | ||||||
| Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord. 2005 Apr;15(4):271-5. | ||||||
| Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY. Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994 Aug;7(4):513-20. | ||||||
| Bannwarth, S., Ait-El-Mkadem, S., Chaussenot, A., Genin, E. C., Lacas-Gervais, S., Fragaki, K., Berg-Alonso, L., Kageyama, Y., Serre, V., Moore, D. G., Verschueren, A., Rouzier, C., and 11 others. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 137: 2329-2345, 2014. | ||||||
| Banwell BL, Russel J, Fukudome T, Shen XM, Stilling G, Engel AG. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol. 1999 Aug;58(8):832-46. | ||||||
| Bao, Y.; Kishnani, P.; Wu, J.-Y.; Chen, Y.-T. : Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J. Clin. Invest. 97: 941-948, 1996. | ||||||
| Baple, E. L., Chambers, H., Cross, H. E., Fawcett, H., Nakazawa, Y., Chioza, B. A., Harlalka, G. V., Mansour, S., Sreekantan-Nair, A., Patton, M. A., Muggenthaler, M., Rich, P., and 10 others. Hypomorphic PCNA mutation underlies a human DNA repair disorder. J. Clin. Invest. 124: 3137-3146, 2014. | ||||||
| Barhoumi, C.; Amouri, R.; Ben Hamida, C.; Ben Hamida, M.; Machghoul, S.; Gueddiche, M.; Hentati, F. : Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3. Neuromusc. Disord. 11: 27-34, 2001. | ||||||
| Barone, R., Aiello, C., Race, V., Morava, E., Foulquier, F., Riemersma, M., Passarelli, C., Concolino, D., Carella, M., Santorelli, F., Vleugels, W., Mercuri, E., and 9 others. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann. Neurol. 72: 550-558, 2012. | ||||||
| Baruffini, E., Dallabona, C., Invernizzi, F., Yarham, J. W., Melchionda, L., Blakely, E. L., Lamantea, E., Donnini, C., Santra, S., Vijayaraghavan, S., Roper, H. P., Burlina, A., and 9 others. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. Hum. Mutat. 34: 1501-1509, 2013. | ||||||
| Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998 Sep;20(1):37-42. | ||||||
| Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet. 1994 Mar;3(3):455-7. | ||||||
| Bauche, S., O'Regan, S., Azuma, Y., Laffargue, F., McMacken, G., Sternberg, D., Brochier, G., Buon, C., Bouzidi, N., Topf, A., Lacene, E., Remerand, G., and 30 others. Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea. Am. J. Hum. Genet. 99: 753-761, 2016. | ||||||
| Bauer, P., Leshinsky-Silver, E., Blumkin, L., Schlipf, N., Schroder, C., Schicks, J., Lev, D., Riess, O., Lerman-Sagie, T., Schols, L.Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47). Neurogenetics 13: 73-76, 2012 | ||||||
| Baumann, M., Schreiber, H., Schlotter-Weigel, B., Loscher, W. N., Stucka, R., Karall, D., Strom, T. M., Bauer, P., Krabichler, B., Fauth, C., Glaeser, D., Senderek, J. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. Clin. Genet. 95: 182-186, 2019. | ||||||
| Baxter, R. V.; Ben Othmane, K.; Rochelle, J. M.; Stajich, J. E.; Hulette, C.; Dew-Knight, S.; Hentati, F.; Ben Hamida, M.; Bel, S.; Stenger, J. E.; Gilbert, J. R.; Pericak-Vance, M. A.; Vance, J. M. : Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nature Genet. 30: 21-22, 2002. | ||||||
| Bayat, V., Thiffault, I., Jaiswal, M., Tetreault, M., Donti, T., Sasarman, F., Bernard, G., Demers-Lamarche, J., Dicaire, M.-J., Mathieu, J., Vanasse, M., Bouchard, J.-P., Rioux, M.-F., Lourenco, C. M., Li, Z., Haueter, C., Shoubridge, E. A., Graham, B. H., Brais, B., Bellen, H. J. Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans. PLos Biol. 10: e1001288, 2012. Note: Electronic Article. | ||||||
| Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW Jr, Feingold N, Feingold J, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III. 1991;312(4):141-8. | ||||||
| Beeson, D.; Higuchi, O.; Palace, J.; Cossins, J.; Spearman, H.; Maxwell, S.; Newsom-Davis, J.; Burke, G.; Fawcett, P.; Motomura, M.; M²ºller, J. S.; Lochm²ºller, H.; Slater, C.; Vincent, A.; Yamanashi, Y. : Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978, 2006. | ||||||
| Beetz, C., Johnson, A., Schuh, A. L. et al. 2013. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc. Nat. Acad. Sci. 110: 5091-5096. | ||||||
| Beetz, C., Pieber, T. R., Hertel, N., Schabhuttl, M., Fischer, C., Trajanoski, S., Graf, E., Keiner, S., Kurth, I., Wieland, T., Varga, R.-E., Timmerman, V., Reilly, M. M., Strom, T. M., Auer-Grumbach, M. Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am. J. Hum. Genet. 91: 139-145, 2012. | ||||||
| Beffagna, G.; Occhi, G.; Nava, A.; Vitiello, L.; Ditadi, A.; Basso, C.; Bauce, B.; Carraro, G.; Thiene, G.; Towbin, J. A.; Danieli, G. A.; Rampazzo, A. : Regulatory mutations in transforming growth factor-beta-3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc. Res. 65: 366-373, 2005. | ||||||
| Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, Zulaica M, López de Munain A, Asselbergh B, De Jonghe P, Baets J. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain. 2019 Jul 22. pii: awz216. doi: 10.1093/brain/awz216. | ||||||
| Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology. 1995 Apr;45(4):768-72. | ||||||
| Bejaoui, K.; Wu, C.; Scheffler, M. D.; Haan, G.; Ashby, P.; Wu, L.; de Jong, P.; Brown, R. H., Jr. : SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nature Genet. 27: 261-262, 2001 | ||||||
| Belaya K., Rodriguez Cruz P.M., Liu W.W., et al. Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain 2015;138:2493–504 | ||||||
| Belaya, K., Finlayson, S., Slater, C. R., Cossins, J., Liu, W. W., Maxwell, S., McGowan, S. J., Maslau, S., Twigg, S. R. F., Walls, T. J., Pascual Pascual, S. I., Palace, J., Beeson, D. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am. J. Hum. Genet. 91: 193-201, 2012. | ||||||
| Bellocq, C.; van Ginneken, A. C. G.; Bezzina, C. R.; Alders, M.; Escande, D.; Mannens, M. M. A. M.; Baro, I.; Wilde, A. A. M. : Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109: 2394-2397, 2004. | ||||||
| Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet. 2004 May;41(5):e61. | ||||||
| Beltran-Valero de Bernabe, D.; Currier, S.; Steinbrecher, A.; Celli, J.; van Beusekom, E.; van der Zwaag, B.; Kayserili, H.; Merlini, L.; Chitayat, D.; Dobyns, W. B.; Cormand, B.; Lehesjoki, A.-E.; Cruces, J.; Voit, T.; Walsh, C. A.; van Bokhoven, H.; Brunner, H. G. : Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am. J. Hum. Genet. 71: 1033-1043, 2002. | ||||||
| Ben Hamida C, Cavalier L, Belal S, Sanhaji H, Nadal N, Barhoumi C, M'Rissa N, Marzouki N, Mandel JL, Ben Hamida M, Koenig M, Hentati F. Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics. 1997 Sep;1(2):129-33. | ||||||
| Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, et al. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet. 1993 Oct;5(2):195-200. | ||||||
| Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, et al. Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. Nat Genet. 1992 Dec;2(4):315-7. | ||||||
| Ben Othmane K, Hentati F, Lennon F, Ben Hamida C, Blel S, Roses AD, Pericak-Vance MA, Ben Hamida M, Vance JM. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet. 1993 Oct;2(10):1625-8. | ||||||
| Ben Othmane K, Middleton LT, Loprest LJ, Wilkinson KM, Lennon F, Rozear MP, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics. 1993 Aug;17(2):370-5. | ||||||
| Beninca C, Zanette V, Brischigliaro M, Johnson M, Reyes A, Valle DAD, J Robinson A, Degiorgi A, Yeates A, Telles BA, Prudent J, Baruffini E, S F Santos ML, R de Souza RL, Fernandez-Vizarra E, J Whitworth A, Zeviani M. Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features. J Med Genet. 2021 Mar;58(3):155-167. doi: 10.1136/jmedgenet-2020-106861. Epub 2020 May 21. PMID: 32439808; PMCID: PMC7116790. | ||||||
| Benjamin, E. J.; Rice, K. M.; Arking, D. E.; Pfeufer, A.; van Noord, C.; Smith, A. V.; Schnabel, R. B.; Bis, J. C.; Boerwinkle, E.; Sinner, M. F.; Dehghan, A.; Lubitz, S. A.; and 44 others. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nature Genet. 41: 879-881, 2009 | ||||||
| Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Durr A, Zaim A, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet. 1995 May;10(1):84-8. | ||||||
| Benson, D. W.; Wang, D. W.; Dyment, M.; Knilans, T. K.; Fish, F. A.; Strieper, M. J.; Rhodes, T. H.; George, A. L., Jr. : Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J. Clin. Invest. 112: 1019-1028, 2003. | ||||||
| Berciano, J., Peeters, K., Garcia, A., Lopez-Alburquerque, T., Gallardo, E., Hernandez-Fabian, A., Pelayo-Negro, A. L., De Vriendt, E., Infante, J., Jordanova, A. NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. J. Neurol. 263: 361-369, 2016. | ||||||
| Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993 Dec 24;262(5142):2039-42. | ||||||
| Betz, R. C.; Schoser, B. G. H.; Kasper, D.; Ricker, K.; Ramirez, A.; Stein, V.; Torbergsen, T.; Lee, Y.-A.; Nothen, M. M.; Wienker, T. F.; Malin, J.-P.; Propping, P.; Reis, A.; Mortier, W.; Jentsch, T. J.; Vorgerd, M.; Kubisch, C. : Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nature Genet. 28: 218-219, 2001. | ||||||
| Bezzina, C.; Veldkamp, M. W.; van den Berg, M. P.; Postma, A. V.; Rook, M. B.; Viersma, J.-W.; van Langen, I. M.; Tan-Sindhunata, G.; Bink-Boelkens, M. T. E.; van der Hout, A. H.; Mannens, M. M. A. M.; Wilde, A. A. M. : A single Na+ channel mutation causing both long-QT and Brugada syndromes. Circ. Res. 85: 1206-1213, 1999. | ||||||
| Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli F, Minetti C and Bruno C. POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes. BBRC 2007;in press | ||||||
| Biancheri, R., Ciccolella, M., Rossi, A., Tessa, A., Cassandrini, D., Minetti, C., Santorelli, F. M. White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1. Neuromusc. Disord. 19: 62-65, 2009. | ||||||
| Bienengraeber, M.; Olson, T. M.; Selivanov, V. A.; Kathmann, E. C.; O'Cochlain, F.; Gao, F.; Karger, A. B.; Ballew, J. D.; Hodgson, D. M.; Zingman, L. V.; Pang, Y.-P.; Alekseev, A. E.; Terzic, A. : ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic K(ATP) channel gating. Nature Genet. 36: 382-387, 2004. | ||||||
| Bilguvar, K., Tyagi, N. K., Ozkara, C., Tuysuz, B., Bakircioglu, M., Choi, M., Delil, S., Caglayan, A. O., Baranoski, J. F., Erturk, O., Yalcinkaya, C., Karacorlu, M., and 9 others. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc. Nat. Acad. Sci. 110: 3489-3494, 2013. | ||||||
| Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet. 1996 Apr;12(4):385-9. | ||||||
| Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7. | ||||||
| Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet. 1995 Oct;4(10):1859-63. | ||||||
| Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982 May;34(3):388-94. | ||||||
| Birouk, N.; Azzedine, H.; Dubourg, O.; Muriel, M.-P.; Benomar, A.; Hamadouche, T.; Maisonobe, T.; Ouazzani, R.; Brice, A.; Yahyaoui, M.; Chkili, T.; LeGuern, E. : Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch. Neurol. 60: 598-604, 2003. | ||||||
| Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet. 2010 Jun;18(6):636-41. Epub 2010 Jan 13 | ||||||
| Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16. | ||||||
| Bitoun, M., Bevilacqua, J. A., Eymard, B., Prudhon, B., Fardeau, M., Guicheney, P., Romero, N. B. A new centronuclear myopathy phenotype due to a novel dynamin 2 mutation. Neurology 72: 93-95, 2009. | ||||||
| Blair, E.; Redwood, C.; Ashrafian, H.; Oliveira, M.; Broxholme, J.; Kerr, B.; Salmon, A.; Ostman-Smith, I.; Watkins, H. : Mutations in the gamma-2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Molec. Genet. 10: 1215-1220, 2001. | ||||||
| Blumen, S. C., Astord, S., Robin, V., Vignaud, L., Toumi, N., Cieslik, A., Achiron, A., Carasso, R. L., Gurevich, M., Braverman, I., Blumen, N., Munich, A., Barkats, M., Viollet, L. A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. Ann. Neurol. 71: 509-519, 2012. | ||||||
| Blumen, S. C.; Bevan, S.; Abu-Mouch, S.; Negus, D.; Kahana, M.; Inzelberg, R.; Mazarib, A.; Mahamid, A.; Carasso, R. L.; Slor, H.; Withers, D.; Nisipeanu, P.; Navon, R.; Reid, E. : A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann. Neurol. 54: 796-803, 2003. | ||||||
| Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun;4(2):160-4. | ||||||
| Blumkin L, Lerman-Sagie T, Lev D, Yosovich K, Leshinsky-Silver E. A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. J Neurol Sci. 2011 Jun 15;305(1-2):67-70. Epub 2011 Mar 25. | ||||||
| Boczonadi, V., Muller, J. S., Pyle, A., Munkley, J., Dor, T., Quartararo, J., Ferrero, I., Karcagi, V., Giunta, M., Polvikoski, T., Birchall, D., Princzinger, A., and 15 others. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Commun. 5: 4287, 2014. Note: Electronic Article. | ||||||
| Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet. 2001 Feb;68(2):325-33. Epub 2000 Dec 15. Erratum in: Am J Hum Genet 2001 Feb;68(2):557. | ||||||
| Boerkoel, C. F.; Takashima, H.; Garcia, C. A.; Olney, R. K.; Johnson, J.; Berry, K.; Russo, P.; Kennedy, S.; Teebi, A. S.; Scavina, M.; Williams, L. L.; Mancias, P.; Butler, I. J.; Krajewski, K.; Shy, M.; Lupski, J. R. : Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann. Neurol. 51: 190-201, 2002. | ||||||
| Bogershausen, N., Shahrzad, N., Chong, J. X., von Kleist-Retzow, J.-C., Stanga, D., Li, Y., Bernier, F. P., Loucks, C. M., Wirth, R., Puffenberger, E. G., Hegele, R. A., Schreml, J., and 22 others. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am. J. Hum. Genet. 93: 181-190, 2013. | ||||||
| Bohlega, S.; Abu-Amero, S. N.; Wakil, S. M.; Carroll, P.; Al-Amr, R.; Lach, B.; Al-Sayed, Y.; Cupler, E. J.; Meyer, B. F. : Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 62: 1518-1521, 2004. | ||||||
| Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Sep 25. pii: awu272. | ||||||
| Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. J Med Genet. 2019 Sep;56(9):617-621. doi: 10.1136/jmedgenet-2018-105390. Epub 2018 Oct 16. PubMed PMID: 30327447. | ||||||
| Bohm, J., Chevessier, F., Maues De Paula, A., Koch, C., Attarian, S., Feger, C., Hantai, D., Laforet, P., Ghorab, K., Vallat, J.-M., Fardeau, M., Figarella-Branger, D., and 9 others. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am. J. Hum. Genet. 92: 271-278, 2013. | ||||||
| Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. Am J Hum Genet. 2010 Feb 12;86(2):213-21. Epub 2010 Jan 21. | ||||||
| Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet. 1991 Mar;48(3):481-5. | ||||||
| Bolino A, Brancolini V, Bono F, Bruni A, Gambardella A, Romeo G, Quattrone A, Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 1996 Jul;5(7):1051-4. | ||||||
| Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9. | ||||||
| Bomont, P.; Cavalier, L.; Blondeau, F.; Ben Hamida, C.; Belal, S.; Tazir, M.; Demir, E.; Topaloglu, H.; Korinthenberg, R.; Tuysuz, B.; Landrieu, P.; Hentati, F.; Koenig, M. : The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nature Genet. 26: 370-374, 2000. | ||||||
| Bomont, P.; Watanabe, M.; Gershoni-Barush, R.; Shizuka, M.; Tanaka, M.; Sugano, J.; Guiraud-Chaumeil, C.; Koenig, M. : Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23. Europ. J. Hum. Genet. 8: 986-990, 2000. | ||||||
| Bone, L. J.; Dahl, N.; Lensch, M. W.; Chance, P. F.; Kelly, T.; Le Guern, E.; Magi, S.; Parry, G.; Shapiro, H.; Wang, S.; Fischbeck, K. H. : New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology 45: 1863-1866, 1995. | ||||||
| Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):438-40. | ||||||
| Bonne GB, DiBarletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-288. | ||||||
| Bonnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet. 1995 Nov;11(3):266-73. Erratum in: Nat Genet 1996 Jan;12(1):110. | ||||||
| Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM. Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet. 1996 Dec;5(12):1953-61. | ||||||
| Bonnen, P. E., Yarham, J. W., Besse, A., Wu, P., Faqeih, E. A., Al-Asmari, A. M., Saleh, M. A. M., Eyaid, W., Hadeel, A., He, L., Smith, F., Yau, S., and 10 others. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am. J. Hum. Genet. 93: 471-481, 2013. Note: Erratum: Am. J. Hum. Genet. 93: 773 only, 2013. | ||||||
| Bonnin, E., Cabochette, P., Filosa, A., Juhlen, R., Komatsuzaki, S., Hezwani, M., Dickmanns, A., Martinelli, V., Vermeersch, M., Supply, L., Martins, N., Pirenne, L., and 14 others. Bilallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 14: e1007845, 2018. Note: Electronic Article. [PubMed: 30543681 | ||||||
| Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. PMID: 33855352. | ||||||
| Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. Epub 2010 Nov 26. | ||||||
| Boschann, F., Cogulu, M. O., Pehlivan, D., Balachandran, S., Vallecillo-Garcia, P., Grochowski, C. M., Hansmeier, N. R., Coban Akdemir, Z. H., Prada-Medina, C. A., Aykut, A., Fischer-Zirnsak, B., Badura, S., and 12 others. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet. Med. 24: 2187-2193, 2022. [PubMed: 35962790, images, related citations] [Full Text] | ||||||
| Boschann, F., Cogulu, M. O., Pehlivan, D., Balachandran, S., Vallecillo-Garcia, P., Grochowski, C. M., Hansmeier, N. R., Coban Akdemir, Z. H., Prada-Medina, C. A., Aykut, A., Fischer-Zirnsak, B., Badura, S., and 12 others. Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis. Genet. Med. 24: 2187-2193, 2022. [PubMed: 35962790, images, related citations] [Full Text] | ||||||
| Bouchard JP, Richter A, Mathieu J, Brunet D, Hudson TJ, Morgan K, Melancon SB. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord. 1998 Oct;8(7):474-9. | ||||||
| Bouhouche A, Benomar A, Birouk N, Mularoni A, Meggouh F, Tassin J, Grid D, Vandenberghe A, Yahyaoui M, Chkili T, Brice A, LeGuern E. A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3. Am J Hum Genet. 1999 Sep;65(3):722-7. | ||||||
| Bouhouche A., Benomar N., Bouslam N. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p12.31-14.1. Eur J Hum Genet 2006a;14:249– 52. | ||||||
| Bouhouche A., Benomar N., Bouslam N. Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet 2006b;43:441–3. | ||||||
| Boukhris, A., Feki, I., Elleuch, N., Miladi, M. I., Boland-Auge, A., Truchetto, J., Mundwiller, E., Jezequel, N., Zelenika, D., Mhiri, C., Brice, A., Stevanin, G. A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum. Neurogenetics 11: 441-448, 2010 | ||||||
| Boukhris, A., Schule, R., Loureiro, J. L., Lourenco, C. M., Mundwiller, E., Gonzalez, M. A., Charles, P., Gauthier, J., Rekik, I., Acosta Lebrigio, R. F., Gaussen, M., Speziani, F., and 21 others. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am. J. Hum. Genet. 93: 118-123, 2013. | ||||||
| Bourassa, C. V., Meijer, I. A., Merner, N. D., Grewal, K. K., Stefanelli, M. G., Hodgkinson, K., Ives, E. J., Pryse-Phillips, W., Jog, M., Boycott, K., Grimes, D. A., Goobie, S., Leckey, R., Dion, P. A., Rouleau, G. A. VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families. Am. J. Hum. Genet. 91: 548-552, 2012. | ||||||
| Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet 2007;39:776-780. | ||||||
| Bouslam N, Bouhouche A, Benomar A, Hanein S, Klebe S, Azzedine H, Di Giandomenico S, Boland-Auge A, Santorelli FM, Durr A, Brice A, Yahyaoui M and Stevanin G. A novel locus for autosomal recessive spastic ataxia on chromosome 17p. Hum Genet 2007;121:413-20. | ||||||
| Bouslam, N.; Benomar, A.; Azzedine, H.; Bouhouche, A.; Namekawa, M.; Klebe, S.; Charon, C.; Durr, A.; Ruberg, M.; Brice, A.; Yahyaoui, M.; Stevanin, G. : Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann. Neurol. 57: 567-571, 2005. | ||||||
| Bowles, K. R.; Gajarski, R.; Porter, P.; Goytia, V.; Bachinski, L.; Roberts, R.; Pignatelli, R.; Towbin, J. A. : Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. J. Clin. Invest. 98: 1355-1360, 1996. | ||||||
| Boyden, S. E., Mahoney, L. J., Kawahara, G., Myers, J. A., Mitsuhashi, S., Estrella, E. A., Duncan, A. R., Dey, F., DeChene, E. T., Blasko-Goehringer, J. M., Bonnemann, C. G., Darras, B. T., Mendell, J. R., Lidov, H. G. W., Nishino, I., Beggs, A. H., Kunkel, L. M., Kang, P. B. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics 13: 115-124, 2012. | ||||||
| Boyer, O., Nevo, F., Plaisier, E., Funalot, B., Gribouval, O., Benoit, G., Cong, E. H., Arrondel, C., Tete, M.-J., Montjean, R., Richard, L., Karras, A., and 21 others. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. New Eng. J. Med. 365: 2377-2388, 2011. | ||||||
| Brahe, C.; Servidei, S.; Zappata, S.; Ricci, E.; Tonali, P.; Neri, G. : Genetic homogeneity between childhood-onset and adult-onset autosomal recessive spinal muscular atrophy. Lancet 346: 741-742, 1995. | ||||||
| Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA, Korcyn AD. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet. 1998 Feb;18(2):164-7. Erratum in: Nat Genet 1998 Aug;19(4):404. Korcyn AD[corrected to Korczyn AD]. | ||||||
| Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tome FM, Bouchard JP, et al. The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13. Hum Mol Genet. 1995 Mar;4(3):429-34. | ||||||
| Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, Michels VV, Olson TM. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. | ||||||
| Brea-Calvo, G., Haack, T. B., Karall, D., Ohtake, A., Invernizzi, F., Carrozzo, R., Kremer, L., Dusi, S., Fauth, C., Scholl-Burgi, S., Graf, E., Ahting, U., and 18 others. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am. J. Hum. Genet. 96: 309-317, 2015. | ||||||
| Breedveld, G. J.; van Wetten, B.; te Raa, G. D.; Brusse, E.; van Swieten, J. C.; Oostra, B. A.; Maat-Kievit, J. A. : A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15. (Letter) J. Med. Genet. 41: 858-866, 2004. | ||||||
| Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME. Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2015 Oct;25(10):786-93. doi: 10.1016/j.nmd.2015.07.001. Epub 2015 Jul 7. PMID: 26227883; PMCID: PMC4920059. | ||||||
| Brenner, D., Muller, K., Wieland, T., Weydt, P., Bohm, S., Lule, D., Hubers, A., Neuwirth, C., Weber, M., Borck, G., Wahlqvist, M., Danzer, K. M., Volk, A. E., Meitinger, T., Strom, T. M., Otto, M., Kassubek, J., Ludolph, A. C., Andersen, P. M., Weishaupt J. H. NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139: e28, 2016. Note: Electronic Article. | ||||||
| Brewer M.H, .Chaudhry R., Qi J., Kidambi A., Drew A.P., Menezes M.P., et al. Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3. PLoS Genet. 2016 Jul 20;12(7):e1006177 | ||||||
| Brkanac, Z., Spencer, D., Shendure, J., Robertson, P. D., Matsushita, M., Vu, T., Bird, T. D., Olson, M. V., Raskind, W. H. IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am. J. Hum. Genet. 84: 692-697, 2009. | ||||||
| Brkanac, Z.; Fernandez, M.; Matsushita, M.; Lipe, H.; Wolff, J.; Bird, T. D.; Raskind, W. H. : Autosomal dominant sensory/motor neuropathy with ataxia (SMNA): linkage to chromosome 7q22-q32. Am. J. Med. Genet. 114: 450-457, 2002. | ||||||
| Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 08. | ||||||
| Brockington M, Sewry CA, Herrmann R, Naom I, Dearlove A, Rhodes M, Topaloglu H, Dubowitz V, Voit T, Muntoni F. Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet. 2000 Feb;66(2):428-35. | ||||||
| Brockington, M., Yuva, Y., Prandini, P., Brown, S. C., Torelli, S., Benson, M. A., Herrmann, R., Anderson, L. V. B., Bashir, R., Burgunder, J.-M., Fallet, S., Romero, N., and 10 others. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Molec. Genet. 10: 2851-2859, 2001. | ||||||
| Brodehl, A., Ferrier, R. A., Hamilton, S. J., Greenway, S. C., Brundler, M.-A., Yu, W., Gibson, W. T., McKinnon, M. L., McGillivray, B., Alvarez, N., Giuffre, M., Schwartzentruber, J., FORGE Canada Consortium, Gerull, B. Mutations in FLNC are associated with familial restrictive cardiomyopathy. Hum. Mutat. 37: 269-279, 2016. | ||||||
| Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Apr 17;69(2):385. | ||||||
| Brown, B. I.; Brown, D. H. : Lack of an alpha-1,4-glucan: alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc. Nat. Acad. Sci. 56: 725-729, 1966. | ||||||
| Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40. | ||||||
| Brownlees, J.; Ackerley, S.; Grierson, A. J.; Jacobsen, N. J. O.; Shea, K.; Anderton, B. H.; Leigh, P. N.; Shaw, C. E.; Miller, C. C. J. : Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum. Molec. Genet. 11: 2837-2844, 2002. | ||||||
| Brownlow, S.; Webster, R.; Croxen, R.; Brydson, M.; Neville, B.; Lin, J.-P.; Vincent, A.; Newsom-Davis, J.; Beeson, D. : Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest. 108: 125-130, 2001. | ||||||
| Brugada, R.; Hong, K.; Dumaine, R.; Cordeiro, J.; Gaita, F.; Borggrefe, M.; Menendez, T. M.; Brugada, J.; Pollevick, G. D.; Wolpert, C.; Burashnikov, E.; Matsuo, K.; Wu, Y. S.; Guerchicoff, A.; Bianchi, F.; Giustetto, C.; Schimpf, R.; Brugada, P.; Antzelevitch, C. : Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 109: 30-35, 2004. | ||||||
| Brugada, R.; Tapscott, T.; Czernuszewicz, G. Z.; Marian, A. J.; Iglesias, A.; Mont, L.; Brugada, J.; Girona, J.; Domingo, A.; Bachinski, L. L.; Roberts, R. : Identification of a genetic locus for familial atrial fibrillation. New Eng. J. Med. 336: 905-911, 1997. | ||||||
| Brunetti, D., Torsvik, J., Dallabona, C., Teixeira, P., Sztromwasser, P., Fernandez-Vizarra, E., Cerutti, R., Reyes, A., Preziuso, C., D'Amati, G., Baruffini, E., Goffrini, P., and 9 others. Defective PITRM1 mitochondrial peptidase is associated with A-beta amyloidotic neurodegeneration. EMBO Molec. Med. 8: 176-190, 2016. | ||||||
| Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffr²® B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8. | ||||||
| Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, Davies KE, Leppert M, Ziter F, Wood D, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990 Apr 5;344(6266):540-1. | ||||||
| Bucelli, R. C., Arhzaouy, K., Pestronk, A., Pittman, S. K., Rojas, L., Sue, C. M., Evila, A., Hackman, P., Udd, B., Harms, M. B., Weihl, C. C. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology 85: 665-674, 2015. | ||||||
| Buchert, R., Uebe, S., Radwan, F., Tawamie, H., Issa, S., Shimazaki, H., Henneke, M., Ekici, A. B., Reis, A., Abou Jamra, R. Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation. Europ. J. Med. Genet. 56: 599-602, 2013. | ||||||
| Bugiardini E, Mitchell AL, Rosa ID, Horning-Do HT, Pitmann A, Poole OV, Holton JL, Shah S, Woodward C, Hargreaves I, Quinlivan R, Amunts A, Wiesner RJ, Houlden H, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A. MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Hum Mol Genet. 2019 Apr 30. pii: ddz093. doi: 10.1093/hmg/ddz093. | ||||||
| Bulman DE, Scoggan KA, van Oene MD, Nicolle MW, Hahn AF, Tollar LL, Ebers GC. A novel sodium channel mutation in a family with hypokalemic periodic paralysis. Neurology. 1999 Dec 10;53(9):1932-6. | ||||||
| Burghes AH, Logan C, Hu X, Belfall B, Worton RG, Ray PN. A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature. 1987 Jul 30-Aug 5;328(6129):434-7. | ||||||
| Burmeister, M.; Li, S.; Leigh, R. J.; Bespalova, I. N.; Weber, J.; Swartz, B. : A new recessive syndrome of cerebellar ataxia with saccadic intrusions maps to 1p36. (Abstract) Am. J. Hum. Genet. 71 (suppl.): A528 only, 2002. | ||||||
| Burns, D. T., Donkervoort, S., Muller, J. S., Knierim, E., Bharucha-Goebel, D., Faqeih, E. A., Bell, S. K., Alfaifi, A. Y., Monies, D., Millan, F., Retterer, K., Dyack, S., and 18 others. Variants in EXOSC9 disrupt the RNA exosome and result in cerebellar atrophy with spinal motor neuronopathy. Am. J. Hum. Genet. 102: 858-873, 2018. [PubMed: 29727687, | ||||||
| Burns, R., Majczenko, K., Xu, J., Peng, W., Yapici, Z., Dowling, J. J., Li, J. Z., Burmeister, M. Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome. Neurology 83: 2175-2182, 2014. | ||||||
| Burwinkel, B., Scott, J. W., Buhrer, C., van Landeghem, F. K. H., Cox, G. F., Wilson, C. J., Hardie, D. G., Kilimann, M. W. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma-2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am. J. Hum. Genet. 76: 1034-1049, 2005. | ||||||
| Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Burglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A, Baiget M, et al. A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet. 1995 Nov;11(3):335-7. | ||||||
| Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992 Feb 6;355(6360):547-8. | ||||||
| Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.-J., van den Elzen, C., van Beusekom, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G. J., Stemple, D. L., Lin, Y.-Y., Lefeber, D. J., van Bokhoven, H. Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum. Molec. Genet. 22: 1746-1754, 2013. | ||||||
| Bykhovskaya, Y., Casas, K., Mengesha, E., Inbal, A., Fischel-Ghodsian, N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am. J. Hum. Genet. 74: 1303-1308, 2004. | ||||||
| Cadieux-Dion, M., Turcotte-Gauthier, M., Noreau, A., Martin, C., Meloche, C., Gravel, M., Drouin, C. A., Rouleau, G. A., Nguyen, D. K., Cossette, P. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. JAMA Neurol. 71: 470-475, 2014. | ||||||
| Cagnoli, C.; Mariotti, C.; Taroni, F.; Seri, M.; Brussino, A.; Michielotto, C.; Grisoli, M.; Di Bella, D.; Migone, N.; Gellera, C.; Di Donato, S.; Brusco, A. : SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2. Brain 129: 235-242, 2006. | ||||||
| Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrab? de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. PMID: 37467750; PMCID: PMC10432148. | ||||||
| Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Related Articles, Links Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7516-21. Epub 2001 May 29. | ||||||
| Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, et al. Related Articles, Links Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996 Mar 8;271(5254):1423-7. | ||||||
| Capuano, A., Bucciotti, F., Farwell, K. D., Davis, B. T., Mroske, C., Hulick, P. J., Weissman, S. M., Gao, Q., Spessotto, P., Colombatti, A., Doliana, R. Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease. Hum. Mutat. 37: 84-97, 2016. [PubMed: 26462740, images, related citations] [Full Text] | ||||||
| Carballo S, Robinson P, Otway R, Fatkin D, Jongbloed JD, de Jonge N, Blair E, van Tintelen JP, Redwood C, Watkins H. Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy. Circ Res. 2009 Aug 14;105(4):375-82. Epub 2009 Jul 9. | ||||||
| Carbone, I.; Bruno, C.; Sotgia, F.; Bado, M.; Broda, P.; Masetti, E.; Panella, A.; Zara, F.; Bricarelli, F. D.; Cordone, G.; Lisanti, M. P.; Minetti, C. : Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 54: 1373-1376, 2000. | ||||||
| Carmignac V, Salih M A, Quijano-Roy S, Marchand S, Al Rayess M M, Mukhtar M M, Urtizberea J A, Labeit S, Guicheney P, Leturcq F, Gautel M, Fardeau M, Campbell K P, Richard I, Estournet B, Ferreiro A. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007; 61: 340-51. | ||||||
| Carniel E, Taylor MR, Sinagra G, Di Lenarda A, Ku L, Fain PR, Boucek MM, Cavanaugh J, Miocic S, Slavov D, Graw SL, Feiger J, Zhu XZ, Dao D, Ferguson DA, Bristow MR, Mestroni L. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation. 2005 Jul 5;112(1):54-9. | ||||||
| Carrie A, Piccolo F, Leturcq F, de Toma C, Azibi K, Beldjord C, Vallat JM, Merlini L, Voit T, Sewry C, Urtizberea JA, Romero N, Tome FM, Fardeau M, Sunada Y, Campbell KP, Kaplan JC, Jeanpierre M. Related Articles, Links Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet. 1997 Jun;34(6):470-5. | ||||||
| Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Related Articles, Links Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311-3. | ||||||
| Carroll, C. J., Isohanni, P., Poyhonen, R., Euro, L., Richter, U., Brilhante, V., Gotz, A., Lahtinen, T., Paetau, A., Pihko, H., Battersby, B. J., Tyynismaa, H., Suomalainen, A. Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy. J. Med. Genet. 50: 151-59, 2013. | ||||||
| Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of ?-dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13. | ||||||
| Carter MT, McMillan HJ, Tomin A, Weiss N. Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy. Channels (Austin). 2019 Dec;13(1):153-161. doi: 10.1080/19336950.2019.1614415. | ||||||
| Casari, G.; De Fusco, M.; Ciarmatori, S.; Zeviani, M.; Mora, M.; Fernandez, P.; De Michele, G.; Filla, A.; Cocozza, S.; Marconi, R.; Durr, A.; Fontaine, B.; Ballabio, A. : Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998. | ||||||
| Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard JP, Mathieu J, Rouleau GA. Related Articles, Links The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet. 1996 Jan;58(1):28-34. | ||||||
| Casey, J. P., Brennan, K., Scheidel, N., McGettigan, P., Lavin, P. T., Carter, S., Ennis, S., Dorkins, H., Ghali, N., Blacque, O. E., McGee, M. M., Murphy, H., Lynch, S. A. Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. Hum. Molec. Genet. 25: 1824-1835, 2016. | ||||||
| Castella-Escola J, Mattei MG, Ojcius DM, Passage E, Valentin C, Cohen-Solal M. Related Articles, Links In situ mapping of the muscle-specific form of phosphoglycerate mutase gene to human chromosome 7p12-7p13. Hum Genet. 1990 Jan;84(2):210-2. | ||||||
| Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet. 2013 Jul;50(7):437-43. doi: 10.1136/jmedgenet-2012-101487. Epub 2013 May 18. | ||||||
| Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. | ||||||
| Chamberlain S, Shaw J, Rowland A, Wallis J, South S, Nakamura Y, von Gabain A, Farrall M, Williamson R. Related Articles, Links Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature. 1988 Jul 21;334(6179):248-50. | ||||||
| Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. Related Articles, Links DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993 Jan 15;72(1):143-51. | ||||||
| Chance, P. F.; Rabin, B. A.; Ryan, S. G.; Ding, Y.; Scavina, M.; Crain, B.; Griffin, J. W.; Cornblath, D. R. : Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34. Am. J. Hum. Genet. 62: 633-640, 1998. | ||||||
| Chaouch A, Porcelli V, Cox D, Edvardson S, Scarcia P, De Grassi A, Pierri CL, Cossins J, Laval SH, Griffin H, Müller JS, Evangelista T, Töpf A, Abicht A, Huebner A, von der Hagen M, Bushby K, Straub V, Horvath R, Elpeleg O, Palace J, Senderek J, Beeson D, Palmieri L, Lochmüller H. Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission. J Neuromuscul Dis. 2014;1(1):75-90. | ||||||
| Chapon, F.; Latour, P.; Diraison, P.; Schaeffer, S.; Vandenberghe, A. : Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J. Neurol. Neurosurg. Psychiat. 66: 779-782, 1999. | ||||||
| Chardon JW, Smith AC, Woulfe J, Pena E, Rakhra K, Dennie C, Beaulieu C, Huang L, Schwartzentruber J, Hawkins C, Harms MB, Dojeiji S, Zhang M; FORGE Canada Consortium, Majewski J, Bulman DE, Boycott KM, Dyment DA. LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26. | ||||||
| Chelban, V., Patel, N., Vandrovcova, J., Zanetti, M. N., Lynch, D. S., Ryten, M., Botia, J. A., Bello, O., Tribollet, E., Efthymiou, S., Davagnanam, I., SYNAPSE Study Group, Bashiri, F. A., Wood, N. W., Rothman, J. E., Alkuraya, F. S., Houlden, H. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination. Am. J. Hum. Genet. 100: 969-977, 2017. | ||||||
| Chemin, J., Siquier-Pernet, K., Nicouleau, M., Barcia, G., Ahmad, A., Medina-Cano, D., Hanein, S., Altin, N., Hubert, L., Bole-Feysot, C., Fourage, C., Nitschke, P., and 17 others. De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. Brain 141: 1998-2013, 2018. | ||||||
| Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. PMID: 27259050; PMCID: PMC4908176. | ||||||
| Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH. Related Articles, Links Free in PMC Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet. 2003 Apr;72(4):839-49. Epub 2003 Mar 17. | ||||||
| Chen, L., Marquardt, M. L., Tester, D. J., Sampson, K. J., Ackerman, M. J., Kass, R. S. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc. Nat. Acad. Sci. 104: 20990-20995, 2007. | ||||||
| Chen, Y.-C., Auer-Grumbach, M., Matsukawa, S., Zitzelsberger, M., Themistocleous, A. C., Strom, T. M., Samara, C., Moore, A. W., Cho, L. T.-Y., Young, G. T., Weiss, C., Schabhuttl, M., and 47 others. Transcriptional regulator PRDM12 is essential for human pain perception. Nature Genet. 47: 803-808, 2015. Note: Erratum: Nature Genet. 47: 962 only, 2015. | ||||||
| Chen, Y.-Z.; Bennett, C. L.; Huynh, H. M.; Blair, I. P.; Puls, I.; Irobi, J.; Dierick, I.; Abel, A.; Kennerson, M. L.; Rabin, B. A.; Nicholson, G. A.; Auer-Grumbach, M.; Wagner, K.; De Jonghe, P.; Griffin, J. W.; Fischbeck, K. H.; Timmerman, V.; Cornblath, D. R.; Chance, P. F. : DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74: 1128-1135, 2004. | ||||||
| Chervinsky E, Khayat M, Soltsman S, Habiballa H, Elpeleg O, Shalev S. A homozygous TTN gene variant associated with lethal congenital contracture syndrome. Am J Med Genet A. 2018;176(4):1001-1005. doi:10.1002/ajmg.a.38639 | ||||||
| Chevessier, F.; Faraut, B.; Ravel-Chapuis A., Richard, P.; Gaudon, K.; Bauch²©, S.; Prioleau, C.; Herbst, R.; Goillot, E.; Ioos, C.; Azulay, J.P.; Attarian, S.; Leroy, J.P.; Fournier, E.; Legay, C.; Schaeffer, L.; Koenig, J.; Fardeau, M.; Eymard, B.; Pouget, J.; Hanta²Ø, D. MUSK, a new target for mutations causing congenital myasthenic syndrome. J. Med. Genet. 13: 3229-3240, 2004. | ||||||
| Chiu C, Bagnall RD, Ingles J, Yeates L, Kennerson M, Donald JA, Jormakka M, Lind JM, Semsarian C. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35. | ||||||
| Chiu, C., Tebo, M., Ingles, J., Yeates, L., Arthur, J. W., Lind, J. M., Semsarian, C. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J. Molec. Cell. Cardiol. 43: 337-343, 2007. | ||||||
| Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Züchner S, Chung KW. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7. PMID:21480433 | ||||||
| Choi, Y.-R., Hong, Y. B., Jung, S.-C., Lee, J. H., Kim, Y. J., Park, H. J., Lee, J., Koo, H., Lee, J.-S., Jwa, D. H., Jung, N., Woo, S.-Y., Kim, S.-B., Chung, K. W., Choi, B.-O. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy. BMC Neurol. 15: 179, 2015. Note: Electronic Article | ||||||
| Chong JX, Talbot JC, Teets EM, Previs S, Martin BL, Shively KM, Marvin CT, Aylsworth AS, Saadeh-Haddad R, Schatz UA, Inzana F, Ben-Omran T, Almusafri F, Al-Mulla M, Buckingham KJ, Harel T, Mor-Shaked H, Radhakrishnan P, Girisha KM, Nayak SS, Shukla A, Dieterich K, Faure J, Rendu J, Capri Y, Latypova X, Nickerson DA, Warshaw DM, Janssen PML; University of Washington Center for Mendelian Genomics, Amacher SL, Bamshad MJ. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis. Am J Hum Genet. 2020 Aug 6;107(2):293-310. doi: 10.1016/j.ajhg.2020.06.014. Epub 2020 Jul 23. PMID: 32707087; PMCID: PMC7413889. | ||||||
| Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17. | ||||||
| Chow, C. Y., Landers, J. E., Bergren, S. K., Sapp, P. C., Grant, A. E., Jones, J. M., Everett, L., Lenk, G. M., McKenna-Yasek, D. M., Weisman, L. S., Figlewicz, D., Brown, R. H., Meisler, M. H. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum. Genet. 84: 85-88, 2009 | ||||||
| Christodoulou K, Deymeer F, Serdaro?lu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics. 2001 Jul;3(3):127-32. | ||||||
| Christodoulou K, Kyriakides T, Hristova AH, Georgiou DM, Kalaydjieva L, Yshpekova B, Ivanova T, Weber JL, Middleton LT. Related Articles, Links Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p. Hum Mol Genet. 1995 Sep;4(9):1629-32. | ||||||
| Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum Mol Genet. 1997 Apr;6(4):635-40. | ||||||
| Christodoulou K, Zamba E, Tsingis M, Mubaidin A, Horani K, Abu-Sheik S, El-Khateeb M, Kyriacou K, Kyriakides T, Al-Qudah AK, Middleton L. A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. Ann Neurol. 2000 Dec;48(6):877-84. | ||||||
| Chung MY, Lu YC, Cheng NC, Soong BW. A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23. Brain. 2003 Jun;126(Pt 6):1293-9. | ||||||
| Chung, K. W.; Sunwoo, I. N.; Kim, S. M.; Park, K. D.; Kim, W.-K.; Kim, T. S.; Koo, H.; Cho, M.; Lee, J.; Choi, B. O. : Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6: 159-163, 2005. | ||||||
| Cinarli Yuksel F, Nicolaou P, Spontarelli K, Dohrn MF, Rebelo AP, Koutsou P, Georghiou A, Artigas P, Züchner SL, Kleopa KA, Christodoulou K. The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease. J Neurol. 2023 May;270(5):2576-2590. doi: 10.1007/s00415-023-11581-w. Epub 2023 Feb 4. PMID: 36738336; PMCID: PMC10130110. | ||||||
| Cipriani S, Guerrero-Valero M, Tozza S, Zhao E, Vollmer V, Beijer D, Danzi M, Rivellini C, Lazarevic D, Pipitone GB, Grosz BR, Lamperti C, Marzoli SB, Carrera P, Devoto M, Pisciotta C, Pareyson D, Kennerson M, Previtali SC, Zuchner S, Scherer SS, Manganelli F, Bähler M, Bolino A. Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy. Eur J Neurol. 2022 Oct 19. doi: 10.1111/ene.15601 | ||||||
| Cirak S, von Deimling F, Sachdev S, Errington WJ, Herrmann R, B²∂nnemann C, Brockmann K, Hinderlich S, Lindner TH, Steinbrecher A, Hoffmann K, Priv²© GG, Hannink M, N²ºrnberg P, Voit T. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy. Brain. 2010 Jul;133(Pt 7):2123-35. Epub 2010 Jun 16. | ||||||
| Cirulli, E. T., Lasseigne, B. N., Petrovski, S., Sapp, P. C., Dion, P. A., Leblond, C. S., Couthouis, J., Lu, Y.-F., Wang, Q., Krueger, B. J., Ren, Z., Keebler, J., and 60 others. Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways. Science 347: 1436-1441, 2015. | ||||||
| Claramunt, R., Pedrola, L., Sevilla, T., Lopez de Munain, A., Berciano, J., Cuesta, A., Sanchez-Navarro, B., Millan, J. M., Saifi, G. M., Lupski, J. R., Vilchez, J. J., Espinos, C., Palau, F. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J. Med. Genet. 42: 358-365, 2005. | ||||||
| Clarke NF, Kidson W, Quijano-Roy S, Estournet B, Ferreiro A, Guicheney P, Manson JI, Kornberg AJ, Shield LK, North KN. SEPN1: associated with congenital fiber-type disproportion and insulin resistance. Ann Neurol. 2006 Mar;59(3):546-52. | ||||||
| Clarke, N. F.; Kolski, H.; Dye, D. E.; Lim, E.; Smith, R. L. L.; Patel, R.; Fahey, M. C.; Bellance, R.; Romero, N. B.; Johnson, E. S.; Labarre-Vila, A.; Monnier, N.; Laing, N. G.; North, K. N. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann. Neurol. 63: 329-337, 2008. | ||||||
| Clarke, N. F.; North, K. N. : Congenital fiber type disproportion--30 years on. J. Neuropath. Exp. Neurol. 62: 977-989, 2003. | ||||||
| Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F. Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann Neurol. 2008 Nov;64(5):573-82. | ||||||
| Clement EM, Godfrey C, Tan J, Brockington M, Torelli S, Feng L, Brown SC, Jimenez-Mallebrera C, Sewry CA, Longman C, Mein R, Abbs S, Vajsar J, Schachter H, Muntoni F. Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. Arch Neurol. 2008 Jan;65(1):137-41. | ||||||
| Clermont, O.; Burlet, P.; Lefebvre, S.; Burglen, L.; Munnich, A.; Melki, J. : SMN gene deletions in adult-onset spinal muscular atrophy. (Letter) Lancet 346: 1712-1713, 1995. | ||||||
| Collier JJ, Guissart C, Oláhová M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schöls L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. N Engl J Med. 2021 Jun 24;384(25):2406-2417. doi: 10.1056/NEJMoa1915722. PMID: 34161705; PMCID: PMC7611730. | ||||||
| Colombo, I.; Finocchiaro, G.; Garavaglia, B.; Garbuglio, N.; Yamaguchi, S.; Frerman, F. E.; Berra, B.; DiDonato, S. : Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaricacidemia type II. Hum. Molec. Genet. 3: 429-435, 1994. | ||||||
| Comi, G. P.; Fortunato, F.; Lucchiari, S.; Bordoni, A.; Prelle, A.; Jann, S.; Keller, A.; Ciscato, P.; Galbiati, S.; Chiveri, L.; Torrente, Y.; Scarlato, G.; Bresolin, N. : Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann. Neurol. 50: 202-207, 2001. | ||||||
| Compton AG, Albrecht DE, Seto JT, Cooper ST, Ilkovski B, Jones KJ, Challis D, Mowat D, Ranscht B, Bahlo M, Froehner SC, North KN. Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. Am J Hum Genet. 2008 Dec;83(6):714-24. Epub 2008 Nov 20. | ||||||
| Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, ?usakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. A form of muscular dystrophy associated with pathogenic variants in JAG2. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Erratum in: Am J Hum Genet. 2021 Jun 3;108(6):1164. PMID: 33861953; PMCID: PMC8206160. | ||||||
| Corral-Juan, M., Casquero, P., Giraldo-Restrepo, N., Laurie, S., Martinez-Pineiro, A., Mateo-Montero, R. C., Ispierto, L., Vilas, D., Tolosa, E., Volpini, V., Alvarez-Ramo, R., Sanchez, I., Matilla-Duenas, A. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun. 4: fcac030, 2022. | ||||||
| Cortese A, Currò R, Ronco R, Blake J, Rossor AM, Bugiardini E, Laurà M, Warner T, Yousry T, Poh R, Polke J, Rebelo A, Dohrn MF, Saporta M, Houlden H, Zuchner S, Reilly MM. Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts. Eur J Neurol. 2023 Sep 29. doi: 10.1111/ene.16063. Epub ahead of print. PMID: 37772343. | ||||||
| Cortese A, Simone R, Sullivan R, Vandrovcova J, Tariq H, Yau WY, Humphrey J, Jaunmuktane Z, Sivakumar P, Polke J, Ilyas M, Tribollet E, Tomaselli PJ, Devigili G, Callegari I, Versino M, Salpietro V, Efthymiou S, Kaski D, Wood NW, Andrade NS, Buglo E, Rebelo A, Rossor AM, Bronstein A, Fratta P, Marques WJ, Züchner S, Reilly MM, Houlden H. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nat Genet. 2019 Apr;51(4):649-658. doi: 10.1038/s41588-019-0372-4. Epub 2019 Mar 29. Erratum in: Nat Genet. 2019 May;51(5):920. PMID: 30926972; PMCID: PMC6709527. | ||||||
| Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., Ilyas, M., Tribollet, E., and 18 others. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia. Nature Genet. 51: 649-658, 2019. Note: Erratum: Nature Genet. 51: 920 only, 2019. | ||||||
| Cortese, A., Tucci, A., Piccolo, G., Galimberti, C. A., Fratta, P., Marchioni, E., Grampa, G., Cereda, C., Grieco, G., Ricca, I., Pittman, A., Ciscato, P., and 9 others. Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology 82: 2072-2076, 2014. | ||||||
| Cortese, A., Zhu, Y., Rebelo, A. P., Negri, S., Courel, S., Abreu, L., Bacon, C. J., Bai, Y., Bis-Brewer, D. M., Bugiardini, E., Buglo, E., Danzi, M. C., and 41 others. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes. Nature Genet. 52: 473-481, 2020. Note: Erratum: Nature Genet. 52: 640 only, 2020. | ||||||
| Cossins J, Belaya K, Hicks D, et al. Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013 Mar;136 (Pt3):944–56. | ||||||
| Cossins J, Webster R, Maxwell S, Rodríguez Cruz PM, Knight R, Llewelyn JG, Shin JY, Palace J, Beeson D. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission. Brain Commun. 2020 Oct 18;2(2):fcaa174. doi: 10.1093/braincomms/fcaa174. PMID: 33215087; PMCID: PMC7660151. | ||||||
| Coste, B., Houge, G., Murray, M. F., Stitziel, N., Bandell, M., Giovanni, M. A., Philippakis, A., Hoischen, A., Riemer, G., Steen, U., Steen, V. M., Mathur, J., Cox, J., Lebo, M., Rehm, H., Weiss, S. T., Wood, J. N., Maas, R. L., Sunyaev, S. R., Patapoutian, A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proc. Nat. Acad. Sci. 110: 4667-4672, 2013. | ||||||
| Cottenie, E., Kochanski, A., Jordanova, A., Bansagi, B., Zimon, M., Horga, A., Jaunmuktane, Z., Saveri, P., Rasic, V. M., Baets, J., Bartsakoulia, M., Ploski, R., and 28 others. Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. Am J Hum Genet 95:590-601. | ||||||
| Coutelier, M., Blesneac, I., Monteil, A., Monin, M.-L., Ando, K., Mundwiller, E., Brusco, A., Le Ber, I., Anheim, M., Castrioto, A., Duyckaerts, C., Brice, A., Durr, A., Lory, P., Stevanin, G. A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia. Am. J. Hum. Genet. 97: 726-737, 2015. | ||||||
| Coutelier, M., Goizet, C., Durr, A., Habarou, F., Morais, S., Dionne-Laporte, A., Tao, F., Konop, J., Stoll, M., Charles, P., Jacoupy, M., Matusiak, R. and 22 others. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 138: 2191-2205, 2015. | ||||||
| Coutelier, M., Jacoupy, M., Janer, A., Renaud, F., Auger, N., Saripella, G.-V., Ancien, F., Pucci, F., Rooman, M., Gilis, D., Lariviere, R., Sgarioto, N., and 17 others. NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia. Brain 145: 1519-1534, 2022. [PubMed: 34788392 | ||||||
| Cox, L. E., Ferraiuolo, L., Goodall, E. F., Heath, P. R., Higginbottom, A., Mortiboys, H., Hollinger, H. C., Hartley, J. A., Brockington, A., Burness, C. E., Morrison, K. E., Wharton, S. B., Grierson, A. J., Ince, P. G., Kirby, J., Shaw, P. J. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). PLoS One 5: e9872, 2010. Note: Electronic Article. | ||||||
| Crockett CD, Ruggieri A, Gujrati M, Zallek CM, Ramachandran N, Minassian BA, Moore SA. Late adult-onset of X-linked myopathy with excessive autophagy. Muscle Nerve. 2014 Jul;50(1):138-44. doi: 10.1002/mus.24197. Epub 2014 May 17. | ||||||
| Crosby, A. H., Patel, H., Chioza, B. A., Proukakis, C., Gurtz, K., Patton, M. A., Sharifi, R., Harlalka, G., Simpson, M. A., Dick, K., Reed, J. A., Al-Memar, A., Chrzanowska-Lightowlers, Z. M. A., Cross, H. E., Lightowlers, R. N. Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am. J. Hum. Genet. 87: 655-660, 2010. | ||||||
| Crotti, L., Johnson, C. N., Graf, E., De Ferrari, G. M., Cuneo, B. F., Ovadia, M., Papagiannis, J., Feldkamp, M. D., Rathi, S. G., Kunic, J. D., Pedrazzini, M., Wieland, T., and 11 others. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation 127: 1009-1017, 2013. | ||||||
| Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J. Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1997 May;6(5):767-74. | ||||||
| Croxen, R.; Vincent, A.; Newsom-Davis, J.; Beeson, D. : Myasthenia gravis in a woman with congenital AChR deficiency due to epsilon-subunit mutations. Neurology 58: 1563-1565, 2002. | ||||||
| Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT. Related Articles, Links A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome. Cell. 1995 Mar 10;80(5):795-803. | ||||||
| D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM and Bertini E. Expanding the clinical spectrum of POMT1 phenotype. Neurology 2006 ;66:1564-7 | ||||||
| Dafsari HS, Kocaturk NM, Daimagüler HS, et al. Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy. Acta Neuropathol Commun. 2019;7(1):211. Published 2019 Dec 18. doi:10.1186/s40478-019-0869-1 | ||||||
| Dalski, A.; Atici, J.; Kreuz, F. R.; Hellenbroich, Y.; Schwinger, E.; Zuhlke, C. : Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. Europ. J. Hum. Genet. 13: 118-120, 2005. | ||||||
| Danhauser, K., Alhaddad, B., Makowski, C., Piekutowska-Abramczuk, D., Syrbe, S., Gomez-Ospina, N., Manning, M. A., Kostera-Pruszczyk, A., Krahn-Peper, C., Berutti, R., Kovacs-Nagy, R., Gusic, M., and 24 others. Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy. Am. J. Hum. Genet. 103: 817-825, 2018 | ||||||
| Daoud, H., Belzil, V., Martins, S., Sabbagh, M., Provencher, P., Lacomblez, L., Meininger, V., Camu, W., Dupre, N., Dion, P. A., Rouleau, G. A. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch. Neurol. 68: 739-742, 2011. | ||||||
| Date, H.; Onodera, O.; Tanaka, H.; Iwabuchi, K.; Uekawa, K.; Igarashi, S.; Koike, R.; Hiroi, T.; Yuasa, T.; Awaya, Y.; Sakai, T.; and 9 others : Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nature Genet. 29: 184-188, 2001. | ||||||
| David G, Durr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A. Related Articles, Links Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7). Hum Mol Genet. 1998 Feb;7(2):165-70. | ||||||
| Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M. C., Guichet, A., Allamand, V., Vadrot, N., Faure, J., Odent, S., Lazaro, L., Leroy, J. P., Marcorelles, P., Dubourg, O., Ferreiro, A. The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease. Hum. Molec. Genet. 25: 1559-1573, 2016. | ||||||
| Davis, J. S.; Hassanzadeh, S.; Winitsky, S.; Lin, H.; Satorius, C.; Vemuri, R.; Aletras, A. H.; Wen, H.; Epstein, N. D. : The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. Cell 107: 631-641, 2001. | ||||||
| Dawkins, J. L.; Hulme, D. J.; Brahmbhatt, S. B.; Auer-Grumbach, M.; Nicholson, G. A. : Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nature Genet. 27: 309-312, 2001. | ||||||
| de Greef, J. C., Lemmers, R. J. L. F., Camano, P., Day, J. W., Sacconi, S., Dunand, M., van Engelen, B. G. M., Kiuru-Enari, S., Padberg, G. W., Rosa, A. L., Desnuelle, C., Spuler, S., Tarnopolsky, M., Venance, S. L., Frants, R. R., van der Maarel, S. M., Tawil, R. Clinical features of facioscapulohumeral muscular dystrophy 2. Neurology 75: 1548-1554, 2010. | ||||||
| De Jonghe, P.; Timmerman, V.; Ceuterick, C.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Vercruyssen, A.; Verellen, C.; Van Maldergem, L.; Martin, J.-J.; Van Broeckhoven, C. : The thr124-to-met mutation in peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122: 281-290, 1999. | ||||||
| De Jonghe, P.; Timmerman, V.; Nelis, E.; De Vriendt, E.; Lofgren, A.; Ceuterick, C.; Martin, J.-J.; Van Broeckhoven, C. : A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch. Neurol. 56: 1283-1288, 1999. | ||||||
| De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB. Related Articles, Links Sjogren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet. 1996 Jan;12(1):52-7. | ||||||
| De Paula AM, Franques J, Fernandez C, Monnier N, Lunardi J, Pellissier JF, Figarella-Branger D, Pouget J. A TPM3 mutation causing cap myopathy. Neuromuscul Disord. 2009 Oct;19(10):685-8. Epub 2009 Jun 23. | ||||||
| de Vries, B.; Mamsa, H.; Stam, A. H.; Wan, J.; Bakker, S. L. M.; Vanmolkot, K. R. J.; Haan, J.; Terwindt, G. M.; Boon, E. M. J.; Howard, B. D.; Frants, R. R.; Baloh, R. W.; Ferrari, M. D.; Jen, J. C.; van den Maagdenberg, A. M. J. M. : Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol. 2009 Jan;66(1):97-101. | ||||||
| Debs S, Ferreira CR, Groden C, Kim HJ, King KA, King MC, Lehky T, Cowen EW, Brown LH, Merideth M, Owen CM, Macnamara E, Toro C, Gahl WA, Soldatos A. Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. Am J Med Genet A. 2021 Jul;185(7):2102-2107. doi: 10.1002/ajmg.a.62245. Epub 2021 Jun 4. PMID: 34089226; PMCID: PMC8330494. | ||||||
| DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., Kouri, N., Wojtas, A., and 16 others. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256, 2011. | ||||||
| Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M. Related Articles, Links Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet. 2000 Jul;67(1):236-43. Epub 2000 Jun 02. | ||||||
| Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, M²©garban²© A, Haase G, L²©vy N. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet. 2007 Jul;81(1):1-16. | ||||||
| Delague, V.; Bareil, C.; Bouvagnet, P.; Salem, N.; Chouery, E.; Loiselet, J.; Megarbane, A.; Claustres, M. : A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family. Neurogenetics 4: 23-27, 2002. | ||||||
| Delatycki, M. B.; Knight, M.; Koenig, M.; Cossee, M.; Williamson, R.; Forrest, S. M. : G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum. Genet. 105: 343-346, 1999. | ||||||
| Delplanque, J., Devos, D., Huin, V., Genet, A., Sand, O., Moreau, C., Goizet, C., Charles, P., Anheim, M., Monin, M. L., Buee, L., Destee, A., and 9 others. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. Brain 137: 2657-2663, 2014. | ||||||
| Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythmia Electrophysiol. 1: 209-218, 2008. | ||||||
| Delpon, E., Cordeiro, J. M., Nunez, L., Thomsen, P. E. B., Guerchicoff, A., Pollevick, G. D., Wu, Y., Kanters, J. K., Larsen, C. T., Hofman-Bang, J., Burashnikov, E., Christiansen, M., Antzelevitch, C. Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome. Circ. Arrhythm. Electrophysiol. 1: 209-218, 2008. Note: Erratum: Circ. Arrhythm. Electrophysiol. 1: e2, 2008. [PubMed: 19122847 | ||||||
| Demir, E.; Sabatelli, P.; Allamand, V.; Ferreiro, A.; Moghadaszadeh, B.; Makrelouf, M.; Topaloglu, H.; Echenne, B.; Merlini, E.; Guicheney, P. : Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am. J. Hum. Genet. 70: 1446-1458, 2002. | ||||||
| Deng, H.-X., Chen, W., Hong, S.-T., Boycott, K. M., Gorrie, G. H., Siddique, N., Yang, Y., Fecto, F., Shi, Y., Zhai, H., Jiang, H., Hirano, M., and 11 others. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477: 211-215, 2011. | ||||||
| Deng, H.-X., Klein, C. J., Yan, J., Shi, Y., Wu, Y., Fecto, F., Yau, H.-J., Yang, Y., Zhai, H., Siddique, N., Hedley-Whyte, E. T., Delong, R., Martina, M, Dyck, P. J., Siddique, T. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. Nature Genet. 42: 165-169, 2010. | ||||||
| Deng, J., Yu, J., Li, P., Luan, X., Cao, L., Zhao, J., Yu, M., Zhang, W., Lv, H., Xie, Z., Meng, L., Zheng, Y., and 22 others. Expansion of GGC repeat in GIPC1 is associated with oculopharyngodistal myopathy. Am. J. Hum. Genet. 106: 793-804, 2020. | ||||||
| Depondt, C., Donatello, S., Rai, M., Wang, F. c., Manto, M., Simonis, N., Pandolfo, M. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43). Neurol. Genet. 2: e94, 2016. Note: Electronic Article. | ||||||
| Depondt, C., Donatello, S., Simonis, N., Rai, M., van Heurck, R., Abramowicz, M., D'Hooghe, M., Pandolfo, M. Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations. Neurology 82: 1749-1750, 2014. | ||||||
| Deschauer, M., Hengel, H., Rupprich, K., Kreiss, M., Schlotter-Weigel, B., Grimmel, M., Admard, J., Schneider, I., Alhaddad, B., Gazou, A., Sturm, M., Vorgerd, M., and 15 others. Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain 144: 574-583, 2021. [PubMed: 33459760, | ||||||
| Deschauer, M., Tennant, S., Rokicka, A., He, L., Kraya, T., Turnbull, D. M., Zierz, S., Taylor, R. W. MELAS associated with mutations in the POLG1 gene. Neurology 68: 1741-1742, 2007. | ||||||
| Devalla, H. D., Gelinas, R., Aburawi, E. H., Beqqali, A., Goyette, P., Freund, C., Chaix, M.-A., Tadros, R., Jiang, H., Le Bechec, A., Monshouwer-Kloots, J. J., Zwetsloot, T., and 17 others. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Molec. Med. 8: 1390-1408, 2016. | ||||||
| Dhandapany, P. S., Razzaque, M. A., Muthusami, U., Kunnoth, S., Edwards, J. J., Mulero-Navarro, S., Riess, I., Pardo, S., Sheng, J., Rani, D. S., Rani, B., Govindaraj, P., and 17 others. RAF1 mutations in childhood-onset dilated cardiomyopathy. Nature Genet. 46: 635-639, 2014. | ||||||
| Di Bella, D., Lazzaro, F., Brusco, A., Plumari, M., Battaglia, G., Pastore, A., Finardi, A., Cagnoli, C., Tempia, F., Frontali, M., Veneziano, L., Sacco, T., and 14 others. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nature Genet. 42: 313-321, 2010. | ||||||
| Di Costanzo, S., Balasubramanian, A., Pond, H. L., Rozkalne, A., Pantaleoni, C., Saredi, S., Gupta, V. A., Sunu, C. M., Yu, T. W., Kang, P. B., Salih, M. A., Mora, M., Gussoni, E., Walsh, C. A., Manzini, M. C. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum. Molec. Genet. 23: 5781-5792, 2014. | ||||||
| Di Fonzo A, Ronchi D, Gallia F, Cribiù FM, Trezzi I, Vetro A, Della Mina E, Limongelli I, Bellazzi R, Ricca I, Micieli G, Fassone E, Rizzuti M, Bordoni A, Fortunato F, Salani S, Mora G, Corti S, Ceroni M, Bosari S, Zuffardi O, Bresolin N, Nobile-Orazio E1, Comi GP. Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation. Neurology Jun 2014, 82 (22) 1990-1998; DOI: 10.1212/WNL.0000000000000476 | ||||||
| Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. PMID: 19409522; PMCID: PMC2681006. | ||||||
| Di Gioia, S. A., Connors, S., Matsunami, N., Cannavino, J., Rose, M. F., Gilette, N. M., Artoni, P., Sobreira, N. L. M., Chan, W.-M., Webb, B. D., Robson, C. D., Cheng, L., and 24 others. A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nature Commun. 8: 16077, 2017. Note: Electronic Article. | ||||||
| Di Gregorio, E., Borroni, B., Giorgio, E., Lacerenza, D., Ferrero, M., Lo Buono, N., Ragusa, N., Mancini, C., Gaussen, M., Calcia, A., Mitro, N., Hoxha, E., and 23 others. ELOVL5 mutations cause spinocerebellar ataxia 38. Am. J. Hum. Genet. 95: 209-217, 2014. | ||||||
| Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology. 2008 Jul 22;71(4):248-52. Epub 2008 May 7. | ||||||
| DiMauro S, Dalakas M, Miranda AF. Phosphoglycerate kinase deficiency: another cause of recurrent myoglobinuria. Ann Neurol. 1983 Jan;13(1):11-9. | ||||||
| DiMauro S, DiMauro PM. Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science. 1973 Nov 20;182(115):929-31. | ||||||
| Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G. De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Am J Hum Genet. 2021 Jan 7;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. Erratum in: Am J Hum Genet. 2022 Apr 7;109(4):759-763. PMID: 33417887; PMCID: PMC7820722. | ||||||
| Doherty, E. J.; Macy, M. E.; Wang, S. M.; Dykeman, C. P.; Melanson, M. T.; Engle, E. C. : CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest. Ophthal. Vis. Sci. 40: 1687-1694, 1999. | ||||||
| Doi, H., Yoshida, K., Yasuda, T., Fukuda, M., Fukuda, Y., Morita, H., Ikeda, S., Kato, R., Tsurusaki, Y., Miyake, N., Saitsu, H., Sakai, H., Miyatake, S., Shiina, M., Nukina, N., Koyano, S., Tsuji, S., Kuroiwa, Y., Matsumoto, N. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am. J. Hum. Genet. 89: 320-327, 2011. | ||||||
| Dong HL, Ma Y, Yu H, Wei Q, Li JQ, Liu GL, Li HF, Chen L, Chen DF, Bai G, Wu ZY. Bi-allelic loss of function variants in COX20 gene cause autosomal recessive sensory neuronopathy. Brain. 2021 Sep 4;144(8):2457-2470. doi: 10.1093/brain/awab135. PMID: 33751098 | ||||||
| Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P. Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet. 1998 Oct;63(4):967-75. | ||||||
| Donkervoort S, Krause N, Dergai M, Yun P, Koliwer J, Gorokhova S, Geist Hauserman J, Cummings BB, Hu Y, Smith R, Uapinyoying P, Ganesh VS, Ghosh PS, Monaghan KG, Edassery SL, Ferle PE, Silverstein S, Chao KR, Snyder M, Ellingwood S, Bharucha-Goebel D, Iannaccone ST, Dal Peraro M, Foley AR, Savas JN, Bolduc V, Fasshauer D, Bönnemann CG, Schwake M. BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO Mol Med. 2021 Dec 7;13(12):e13787. doi: 10.15252/emmm.202013787. Epub 2021 Nov 15. PMID: 34779586; PMCID: PMC8649873. | ||||||
| Donkervoort S, Sabouny R, Yun P, Gauquelin L, Chao KR, Hu Y, Al Khatib I, Töpf A, Mohassel P, Cummings BB, Kaur R, Saade D, Moore SA, Waddell LB, Farrar MA, Goodrich JK, Uapinyoying P, Chan SHS, Javed A, Leach ME, Karachunski P, Dalton J, Medne L, Harper A, Thompson C, Thiffault I, Specht S, Lamont RE, Saunders C, Racher H, Bernier FP, Mowat D, Witting N, Vissing J, Hanson R, Coffman KA, Hainlen M, Parboosingh JS, Carnevale A, Yoon G, Schnur RE; Care4Rare Canada Consortium, Boycott KM, Mah JK, Straub V, Foley AR, Innes AM, Bönnemann CG, Shutt TE. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. Acta Neuropathol. 2019 Aug 29. doi: 10.1007/s00401-019-02059-z. | ||||||
| Donner K, Ollikainen M, Ridanpaa M, Christen HJ, Goebel HH, de Visser M, Pelin K, Wallgren-Pettersson C. Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord. 2002 Feb;12(2):151-8. | ||||||
| Dor, T., Cinnamon, Y., Raymond, L., Shaag, A., Bouslam, N., Bouhouche, A., Gaussen, M., Meyer, V., Durr, A., Brice, A., Benomar, A., Stevanin, G., Schuelke, M., Edvardson, S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J. Med. Genet. 51: 137-142, 2014. | ||||||
| Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord. 2000 Jun;10(4-5):240-6. | ||||||
| Duan, R., Shi, Y., Yu, L., Zhang, G., Li, J., Lin, Y., Guo, J., Wang, J., Shen, L., Jiang, H., Wang, G., Tang, B. UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia. PLoS One 11: e0149039, 2016. | ||||||
| Duarri, A., Jezierska, J., Fokkens, M., Meijer, M., Schelhaas, H. J., den Dunnen, W. F. A., van Dijk, F., Verschuuren-Bemelmans, C., Hageman, G., van de Vlies, P., Kusters, B., van de Warrenburg, B. P., Kremer, B., Wijmenga, C., Sinke, R. J., Swertz, M. A., Kampinga, H. H., Boddeke, E., Verbeek, D. S. Mutations in potassium channel KCND3 cause spinocerebellar ataxia type 19. Ann. Neurol. 72: 870-880, 2012 | ||||||
| Duboscq-Bidot L, Charron P, Ruppert V, Fauchier L, Richter A, Tavazzi L, Arbustini E, Wichter T, Maisch B, Komajda M, Isnard R, Villard E. Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy. Eur Heart J. 2009 Sep;30(17):2128-36. Epub 2009 Jun 12. | ||||||
| Duboscq-Bidot L, Xu P, Charron P, Neyroud N, Dilanian G, Millaire A, Bors V, Komajda M, Villard E. Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 2008 Jan;77(1):118-25. Epub 2007 Sep 19. | ||||||
| Dudding, T. E.; Friend, K.; Schofield, P. W.; Lee, S.; Wilkinson, I. A.; Richards, R. I. : Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus. Neurology 63: 2288-2292, | ||||||
| Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schöffler W, van der Ven PF, Fürst DO, Song J, Djinovi?-Carugo K, Penttilä S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-40. Epub 2011 May 27. | ||||||
| Durand J B, Bachinski L L, Bieling L C, Czernuszewicz G Z, Abchee A B, Yu Q T, Tapscott T, Hill R, Ifegwu J, Marian A J, Brugada R, Daiger S, Gregoritch J, Anderson J, Qui²±ones M, Towbin J, Roberts R. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation 1995; 92: 3387-9. | ||||||
| Durmus H, Ayhan O, Çırak S, Deymeer F, Parman Y, Franke A, Eiber N, Chevessier F, Schlötzer-Schrehardt U, Clemen CS, Hashemolhosseini S, Schroder R, Hemmrich-Stanisak G, Tolun A, Serdaroglu-Oflazer P. Neuromuscular endplate pathology in recessive desminopathies: Lessons from man and mice. Neurology. 2016 Aug 23;87(8):799-805. doi: 10.1212/WNL.0000000000003004. Epub 2016 Jul 20. PMID: 27440146 | ||||||
| Dursun U, Koroglu C, Kocasoy Orhan E, Ugur SA, Tolun A. Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1. Neurogenetics. 2009 Oct;10(4):325-31. Epub 2009 May 5. | ||||||
| Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 Jun 3;29(9):1568-1579. doi: 10.1093/hmg/ddaa081. PMID: 32356556; PMCID: PMC7268787. | ||||||
| Ebers GC, George AL, Barchi RL, Ting-Passador SS, Kallen RG, Lathrop GM, Beckmann JS, Hahn AF, Brown WF, Campbell RD, et al. Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene. Ann Neurol. 1991 Dec;30(6):810-6. | ||||||
| Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. | ||||||
| Edvardson S., Cinnamon Y., Jalas C., et al. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin. Ann Neurol 2012;71:569–72. | ||||||
| Edvardson, S., Elbaz-Alon, Y., Jalas, C., Matlock, A., Patel, K., Labbe, K., Shaag, A., Jackman, J. E., Elpeleg, O. A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. Neurogenetics 17: 219-225, 2016. | ||||||
| Edwards YH, Sakoda S, Schon E, Povey S. The gene for human muscle-specific phosphoglycerate mutase, PGAM2, mapped to chromosome 7 by polymerase chain reaction. Genomics. 1989 Nov;5(4):948-51. | ||||||
| Eidhof, I., Baets, J., Kamsteeg, E.-J., Deconinck, T., van Ninhuijs, L., Martin, J.-J., Schule, R., Zuchner, S., De Jonghe, P., Schenck, A., van de Warrenburg, B. P. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain 141: 2592-2604, 2018.[PubMed: 30084953] | ||||||
| Einarsdottir, E.; Carlsson, A.; Minde, J.; Toolanen, G.; Svensson, O.; Solders, G.; Holmgren, G.; Holmberg, D.; Holmberg, M. : A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum. Molec. Genet. 13: 799-805, 2004. | ||||||
| Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati G, Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet. 2001 Sep;29(1):83-7. | ||||||
| Elbaz A, Vale-Santos J, Jurkat-Rott K, Lapie P, Ophoff RA, Bady B, Links TP, Piussan C, Vila A, Monnier N, et al. Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. Am J Hum Genet. 1995 Feb;56(2):374-80. | ||||||
| Elden, A. C., Kim, H.-J., Hart, M. P., Chen-Plotkin, A. S., Johnson, B. S., Fang, X., Armakola, M., Geser, F., Greene, R., Lu, M. M., Padmanabhan, A., Clay-Falcone, D., and 11 others. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466: 1069-1075, 2010. | ||||||
| Elleuch N, Bouslam N, Hanein S, Lossos A, Hamri A, Klebe S, Meiner V, Birouk N, Lerer I, Grid D, Bacq D, Tazir M, Zelenika D, Argov Z, Durr A, Yahyaoui M, Benomar A, Brice A, Stevanin G. Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families. Neurogenetics. 2007 Nov;8(4):307-15. Epub 2007 Jul 28. | ||||||
| Ellinor, P. T.; Shin, J. T.; Moore, R. K.; Yoerger, D. M.; MacRae, C. A. : Locus for atrial fibrillation maps to chromosome 6q14-16. Circulation 107: 2880-2883, 2003. | ||||||
| Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 2005;76:1081-1086. | ||||||
| Elsaid, M. F., Chalhoub, N., Ben-Omran, T., Kumar, P., Kamel, H., Ibrahim, K., Mohamoud, Y., Al-Dous, E., Al-Azwani, I., Malek, J. A., Suhre, K., Ross, M. E., Aleem, A. A. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Ann. Neurol. 81: 68-78, 2017. [PubMed: 27863452 | ||||||
| Endo, Y., Dong, M., Noguchi, S., Ogawa, M., Hayashi, Y. K., Kuru, S., Sugiyama, K., Nagai, S., Ozasa, S., Nonaka, I., Nishino, I. Milder forms of muscular dystrophy associated with POMGNT2 mutations. Neurol. Genet. 1: e33, 2015. Note: Electronic Article. | ||||||
| Engel AG, Ohno K, Bouzat C, Sine SM, Griggs RC. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon sub-unit. Ann Neurol 1996;40:810-817. | ||||||
| Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27. | ||||||
| Engel AG, Selcen D, Shen XM, Milone M, Harper CM. Loss of MUNC13-1 function causes microcephaly, cortical hyperexcitability, and fatal myasthenia. Neurol Genet. 2016 Sep 8;2(5):e105. doi: 10.1212/NXG.0000000000000105. eCollection 2016 Oct. | ||||||
| Engert JC, Berube P, Mercier J, Dore C, Lepage P, Ge B, Bouchard JP, Mathieu J, Melancon SB, Schalling M, Lander ES, Morgan K, Hudson TJ, Richter A. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet. 2000 Feb;24(2):120-5. | ||||||
| Engert, J. C.; Dore, C.; Mercier, J.; Ge, B.; Betard, C.; Rioux, J. D.; Owen, C.; Berube, P.; Devon, K.; Birren, B.; Melancon, S. B.; Morgan, K.; Hudson, T. J.; Richter, A. : Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. Genomics 62: 156-164, 1999. | ||||||
| Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May;7(1):69-73. | ||||||
| Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011 May;21(5):658-64. Epub 2011 Apr 12. | ||||||
| Escayg, A.; De Waard, M.; Lee, D. D.; Bichet, D.; Wolf, P.; Mayer, T.; Johnston, J.; Baloh, R.; Sander, T.; Meisler, M. H. : Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66: 1531-1539, 2000. | ||||||
| Estan MC, Fernandez-Nunez E, Zaki MS, Esteban MI, Donkervoort S, Hawkins C, Caparros-Martin JA, Saade D, Hu Y, Bolduc V, Chao KR, Nevado J, Lamuedra A, Largo R, Herrero-Beaumont G, Regadera J, Hernandez-Chico C, Tizzano EF, Martinez-Glez V, Carvajal JJ, Zong R, Nelson DL, Otaify GA, Temtamy S, Aglan M, Issa M, Bonnemann CG, Lapunzina P, Yoon G, Ruiz-Perez VL. Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy. Nat Commun. 2019 Feb 15;10(1):797. doi: 10.1038/s41467-019-08548-9. | ||||||
| Esteves, T., Durr, A., Mundwiller, E., Loureiro, J. L., Boutry, M., Gonzalez, M. A., Gauthier, J., El-Hachimi, K. H., Depienne, C., Muriel, M.-P., Acosta Lebrigio, R. F., Gaussen, M., and 11 others. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am. J. Hum. Genet. 94: 268-277, 2014. | ||||||
| Evgrafov, O. V.; Mersiyanova, I.; Irobi, J.; Van Den Bosch, L.; Dierick, I.; Leung, C. L.; Schagina, O.; Verpoorten, N.; Van Impe, K.; Fedotov, V.; Dadali, E.; Auer-Grumbach, M.; and 14 others : Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nature Genet. 36: 602-606, 2004. | ||||||
| Eymard-Pierre, E.; Lesca, G.; Dollet, S.; Santorelli, F. M.; di Capua, M.; Bertini, E.; Boespflug-Tanguy, O. : Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am. J. Hum. Genet. 71: 518-527, 2002. | ||||||
| Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy. Ann. Neurol. 71: 26-39, 2012. | ||||||
| Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintans, B., Ordonez-Ugalde, A., Cortese, A., Courel, S., and 30 others. Truncating mutations in UBAP1 cause hereditary spastic paraplegia. Am. J. Hum. Genet. 104: 767-773, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 1251 only, 2019. | ||||||
| Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011 Oct;48(10):691-7. | ||||||
| Fatkin, D.; MacRae, C.; Sasaki, T.; Wolff, M. R.; Porcu, M.; Frenneaux, M.; Atherton, J.; Vidaillet, H. J., Jr.; Spudich, S.; De Girolami, U.; Seidman, J. G.; Seidman, C. E. :Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng. J. Med. 341: 1715-1724, 1999. | ||||||
| Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014. | ||||||
| Fecto, F., Yan, J., Vemula, S. P., Liu, E., Yang, Y., Chen, W., Zheng, J. G., Shi, Y., Siddique, N., Arrat, H., Donkervoort, S., Ajroud-Driss, S., Sufit, R. L., Heller, S. L., Deng, H.-X., Siddique, T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68: 1440-1446. | ||||||
| Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print] | ||||||
| Feit, H.; Silbergleit, A.; Schneider, L. B.; Gutierrez, J. A.; Fitoussi, R.-P.; Reyes, C.; Rouleau, G. A.; Brais, B.; Jackson, C. E.; Beckmann, J. S.; Seboun, E. : Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am. J. Hum. Genet. 63: 1732-1742, 1998. | ||||||
| Fernet, M.; Gribaa, M.; Salih, M. A. M.; Seidahmed, M. Z.; Hall, J.; Koenig, M. : Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum. Molec. Genet. 14: 307-318, 2005. | ||||||
| Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord. 2011 Jun;21(6):433-8. Epub 2011 May 6. | ||||||
| Ferreiro, A.; Ceuterick-de Groote, C.; Marks, J. J.; Goemans, N.; Schreiber, G.; Hanefeld, F.; Fardeau, M.; Martin, J.-J.; Goebel, H. H.; Richard, P.; Guicheney, P.; Bonnemann, C. G. : Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann. Neurol. 55: 676-686, 2004. | ||||||
| Ferreiro, A.; Monnier, N.; Romero, N. B.; Leroy, J.-P.; Bonnemann, C.; Haenggeli, C.-A.; Straub, V.; Voss, W. D.; Nivoche, Y.; Jungbluth, H.; Lemainque, A.; Voit, T.; Lunardi, J.; Fardeau, M.; Guicheney, P. : A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann. Neurol. 51: 750-759, 2002. | ||||||
| Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, N.; Bonnemann, C.; Jungbluth, H.; Straub, V.; Villanova, M.; Leroy, J.-P.; Romero, N. B.; Martin, J.-J.; Muntoni, F.; Voit, T.; Estournet, B.; Richard, P.; Fardeau, M.; Guicheney, P. : Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am. J. Hum. Genet. 71: 739-749, 2002 | ||||||
| Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R. Combined loss of LAP1B and LAP1C results in an early onset multisystemic , nuclear envelopathy. Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7. | ||||||
| Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995 Jan;56(1):188-92. | ||||||
| Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):661-5. Erratum in: Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10981. | ||||||
| Finsterer J, Stöllberger C, Hasun M, Riedhammer K, Wagner M. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Rep Cardiol. 2020;2020:5128069. Published 2020 May 13. doi:10.1155/2020/5128069 | ||||||
| Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 1986 Dec;36(12):1595-8. | ||||||
| Fischer D, Herasse M, Bitoun M, Barrag²°n-Campos HM, Chiras J, Lafor²™t P, Fardeau M, Eymard B, Guicheney P, Romero NB. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain. 2006 Jun;129(Pt 6):1463-9. Epub 2006 Apr 3. | ||||||
| Fischer J, Lefevre C, Morava E, Mussini J M, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007; 39: 28-30. | ||||||
| Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996 Aug;59(2):392-9. | ||||||
| Fogel, B. L., Hanson, S. M., Becker, E. B. E. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov. Disord. 30: 284-286, 2015. | ||||||
| Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. PMID: 32403198; PMCID: PMC7496979. | ||||||
| Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000 Feb;66(2):702-7. | ||||||
| Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990 Nov 16;250(4983):1000-2. | ||||||
| Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet. 1994 Mar;6(3):267-72. | ||||||
| Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. A mutation in myotilin causes spheroid body myopathy. Neurology 65: 1936-1940, 2005. | ||||||
| Fragaki K., Chaussenot A., Boutron A., et al. Severe defect in mitochondrial complex I assembly with mtDNA deletions in ACAD9-deficient mild myopathy. Muscle Nerve 2016; doi:10.1002/mus.25262 | ||||||
| Freed AS, Weiss MD, Malouf EA, Hisama FM. CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle Nerve. 2019;60(5):E28-E30. doi:10.1002/mus.26658 | ||||||
| Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Muller, K., Marroquin, N., Nordin, F., Hubers, A., Weydt, P., Pinto, S., Press, R., and 28 others. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nature Neurosci. 18: 631-636, 2015. | ||||||
| Freneaux, E.; Sheffield, V. C.; Molin, L.; Shires, A.; Rhead, W. J. : Glutaric acidemia type II: heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha-subunit of electron transfer flavoprotein in eight patients. J. Clin. Invest. 90: 1679-1686, 1992. | ||||||
| Freyer, C., Stranneheim, H., Naess, K., Mourier, A., Felser, A., Maffezzini, C., Lesko, N., Bruhn, H., Engvall, M., Wibom, R., Barbaro, M., Hinze, Y., Magnusson, M., Andeer, R., Zetterstrom, R. H., von Dobeln, U., Wredenberg, A., Wedell, A. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J. Med. Genet. 52: 779-783, 2015. | ||||||
| Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet. 1987 Mar;75(3):291-3. | ||||||
| Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am. J. Hum. Genet. 70: 663-672, 2002. | ||||||
| Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter) Clin. Genet. 96: 590-591, 2019. [PubMed: 31469168, related citations] | ||||||
| Fu, Y.-H.; Pizzuti, A.; Fenwick, R. G., Jr.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; de Jong, P.; Wieringa, B.; Korneluk, R.; Perryman, M. B.; Epstein, H. F.; Caskey, C. T. : An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258, 1992. | ||||||
| Fujigasaki, H.; Verma, I. C.; Camuzat, A.; Margolis, R. L.; Zander, C.; Lebre, A.-S.; Jamot, L.; Saxena, R.; Anand, I.; Holmes, S. E.; Ross, C. A.; Durr, A.; Brice, A. : SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 49: 117-121, 2001. | ||||||
| Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991 Jul 26;253(5018):448-51. | ||||||
| Fulizio, L.; Nascimbeni, A. C.; Fanin, M.; Piluso, G.; Politano, L.; Nigro, V.; Angelini, C. : Molecular and muscle pathology in a series of caveolinopathy patients. Hum. Mutat. 25: 82-89, 2005. | ||||||
| Gabellini, D.; D'Antona, G.; Moggio, M.; Prelle, A.; Zecca, C.; Adami, R.; Angeletti, B.; Ciscato, P.; Pellegrino, M. A.; Bottinelli, R.; Green, M. R.; Tupler, R. : Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. Nature 439: 973-977, 2006. | ||||||
| Gabellini, D.; Green, M. R.; Tupler, R. : Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339-348, 2002. | ||||||
| Gache Y, Chavanas S, Lacour JP, Wiche G, Owaribe K, Meneguzzi G, Ortonne JP. Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 May 15;97(10):2289-98. | ||||||
| Gai, X., Ghezzi, D., Johnson, M. A., Biagosch, C. A., Shamseldin, H. E., Haack, T. B., Reyes, A., Tsukikawa, M., Sheldon, C. A., Srinivasan, S., Gorza, M., Kremer, L. S., and 28 others. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am. J. Hum. Genet. 93: 482-495, 2013. | ||||||
| Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. Hum Mutat. 2011 Nov;32(11):1225-31. doi: 10.1002/humu.21562. Epub 2011 Sep 14. | ||||||
| Gan-Or, Z., Bouslam, N., Birouk, N., Lissouba, A., Chambers, D. B., Verlepe, J., Androschuk, A., Laurent, S. B., Rochesfort, D., Spiegelman, D., Dionne-Laporte, A., Szuto, A., and 15 others. Mutations in CAPN1 cause autosomal-recessive hereditary spastic paraplegia. Am. J. Hum. Genet. 98: 1038-1046, 2016. Note: Erratum: Am. J. Hum. Genet. 98: 1271 only, 2016. | ||||||
| Ganapathi, M., Argyriou, L., Martinez-Azorin, F., Morlot, S., Yigit, G., Lee, T. M., Auber, B., von Gise, A., Petrey, D. S., Thiele, H., Cyganek, L., Sabater-Molina, M., and 12 others. Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis. Hum. Genet. 139: 1443-1454, 2020 | ||||||
| Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G. Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. PubMed PMID: 30208948; PubMed Central PMCID: PMC6136213. | ||||||
| Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. PMID: 30611313 | ||||||
| Gatti, R. A.; Berkel, I.; Boder, E.; Braedt, G.; Charmley, P.; Concannon, P.; Ersoy, R.; Foroud, T.; Jaspers, N. G. J.; Lange, K.; Lathrop, G. M.; Leppert, M.; Nakamura, Y.; O'Connell, P.; Paterson, M.; Salser, W.; Sanal, O.; Silver, J.; Sparkes, R. S.; Susi, E.; Weeks, D. E.; Wei, S.; White, R.; Yoder, F. : Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature 336: 577-580, 1988 | ||||||
| Gauthier, J., Meijer, I. A. Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., Rodan, L. H., Karamchandani, J., and 11 others. Recessive mutations in VPS13D cause childhood onset movement disorders. Ann. Neurol. 83: 1089-1095, 2018. | ||||||
| Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations. Muscle Nerve. 2011 Nov;44(5):703-9. doi: 10.1002/mus.22132. Epub 2011 Sep 26. | ||||||
| Ge L, Fu X, Zhang W, Wang D, Wang Z, Yuan Y, Nonaka I, Xiong H. Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement. Neuromuscul Disord. 2019 May;29(5):350-357. doi: 10.1016/j.nmd.2019.03.007. Epub 2019 Mar 14. | ||||||
| Gedeon, A. K.; Wilson, M. J.; Colley, A. C.; Sillence, D. O.; Mulley, J. C. : X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome. J. Med. Genet. 32: 383-388, 1995. | ||||||
| Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, N²§gele H, Scheffold T, Dietz R, Chien KR, Spuler S, F²ºrst DO, N²ºrnberg P, Ozcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. Epub 2008 May 27. | ||||||
| Geis T., Marquard K., Rödl T., Reihle C., Schirmer S., von Kalle T., et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 14: 205-213, 2013. | ||||||
| Genis, D., Ortega-Cubero, S., San Nicolas, H., Corral, J., Gardenyes, J., de Jorge, L., Lopez, E., Campos, B., Lorenzo, E., Tonda, R., Beltran, S., Negre, M., and 9 others. Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48). Neurology 91: e1988-e1998, 2018. Note: Electronic Article. | ||||||
| Gennarino, V. A., Palmer, E. E., McDonell, L. M., Wang, L., Adamski, C. J., Koire, A., See, L., Chen, C.-A., Schaaf, C. P., Rosenfeld, J. A., Panzer, J. A., Moog, U. A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures. Cell 172: 924-936, 2018. | ||||||
| George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10. | ||||||
| Georgiou, D.-M.; Zidar, J.; Korosec, M.; Middleton, L. T.; Kyriakides, T.; Christodoulou, K. : A novel NF-L mutation pro22-to-ser is associated with CMT2 in a large Slovenian family. Neurogenetics 4: 93-96, 2002. | ||||||
| Geremek M, Dudarewicz L, Obersztyn E, et al. Null variants in AGRN cause lethal fetal akinesia deformation sequence. Clin Genet. 2020;97(4):634-638. doi:10.1111/cge.13677 | ||||||
| Gerull, B.; Gramlich, M.; Atherton, J.; McNabb, M.; Trombitas, K.; Sasse-Klaassen, S.; Seidman, J. G.; Seidman, C.; Granzier, H.; Labeit, S.; Frenneaux, M.; Thierfelder, L. : Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nature Genet. 30: 201-204, 2002. | ||||||
| Gerull, B.; Heuser, A.; Wichter, T.; Paul, M.; Basson, C. T.; McDermott, D. A.; Lerman, B. B.; Markowitz, S. M.; Ellinor, P. T.; MacRae, C. A.; Peters, S.; Grossmann, K. S.; Michely, B.; Sasse-Klaassen, S.; Birchmeier, W.; Dietz, R.; Breithardt, G.; Schulze-Bahr, E.; Thierfelder, L. : Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nature Genet. 36: 1162-1164, 2004. | ||||||
| Gess B, Auer-Grumbach M, Schirmacher A, Strom T, Zitzelsberger M, Rudnik-Schöneborn S, Röhr D, Halfter H, Young P, Senderek J. HSJ1-related hereditary neuropathies: Novel mutations and extended clinical spectrum. Neurology. 2014 Nov 4;83(19):1726-32. doi: 10.1212/WNL.0000000000000966. Epub 2014 Oct 1. | ||||||
| Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy [published correction appears in Neurology. 2016 Mar 15;86(11):1077]. Neurology. 2016;86(4):391-398. doi:10.1212/WNL.0000000000002324 | ||||||
| Ghezzi, D., Baruffini, E., Haack, T. B., Invernizzi, F., Melchionda, L., Dallabona, C., Strom, T. M., Parini, R., Burlina, A. B., Meitinger, T., Prokisch, H., Ferrero, I., Zeviani, M. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Am. J. Hum. Genet. 90: 1079-1087, 2012. | ||||||
| Ghosh, S. G., Becker, K., Huang, H., Dixon-Salazar, T., Chai, G., Salpietro, V., Al-Gazali, L., Waisfisz, Q., Wang, H., Vaux, K. K., Stanley, V., Manole, A., and 27 others. Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome. Am. J. Hum. Genet. 103: 431-439, 2018. | ||||||
| Gillard EF, Otsu K, Fujii J, Duff C, de Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics. 1992 Aug;13(4):1247-54. | ||||||
| Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991 Nov;11(3):751-5. | ||||||
| Gilliam TC, Brzustowicz LM, Castilla LH, Lehner T, Penchaszadeh GK, Daniels RJ, Byth BC, Knowles J, Hislop JE, Shapira Y, et al. Genetic homogeneity between acute and chronic forms of spinal muscular atrophy. Nature. 1990 Jun 28;345(6278):823-5. | ||||||
| Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C, et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet. 1993 Jul;4(3):295-9. | ||||||
| Giudicessi, J. R., Ye, D., Tester, D. J., Crotti, L., Mugione, A., Nesterenko, V. V., Albertson, R. M., Antzelevitch, C., Schwartz, P. J., Ackerman, M. J. Transient outward current (I-to) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm 8: 1024-1032, 2011. | ||||||
| Giunta M., Edvardson S., XuY., et al. Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy. Hum Mol Genet 2016 | ||||||
| Giusti, B.; Lucarini, L.; Pietroni, V.; Lucioli, S.; Bandinelli, B.; Sabatelli, P.; Squarzoni, S.; Petrini, S.; Gartioux, C.; Talim, B.; Roelens, F.; Merlini, L.; Topaloglu, H.; Bertini, E.; Guicheney, P.; Pepe, G.: Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann. Neurol. 58: 400-410, 2005. | ||||||
| Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. Epub 2007 Sep 18. | ||||||
| Godfrey, C.; Escolar, D.; Brockington, M.; Clement, E. M.; Mein, R.; Jimenez-Mallebrera, C.; Torelli, S.; Feng, L.; Brown, S. C.; Sewry, C. A.; Rutherford, M.; Shapira, Y.; Abbs, S.; Muntoni, F. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol 2006, 60, 603-610 | ||||||
| Goebel, H. H., Anderson, J. R., Hubner, C., Oexle, K., Warlo, I. Congenital myopathy with excess of thin myofilaments. Neuromusc. Disord. 7: 160-168, 1997. [PubMed: 9185179, related citations] [Full Text] | ||||||
| Goizet, C., Boukhris, A., Durr, A., Beetz, C., Truchetto, J., Tesson, C., Tsaousidou, M., Forlani, S., Guyant-Marechal, L., Fontaine, B., Guimaraes, J., Isidor, B., and 14 others CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain 132: 1589-1600, 2009. | ||||||
| Goldfarb LG, Park KY, Cervenakova L, Gorokhova S, Lee HS, Vasconcelos O, Nagle JW, Semino-Mora C, Sivakumar K, Dalakas MC. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998 Aug;19(4):402-3. | ||||||
| Gollob, M. H.; Jones, D. L.; Krahn, A. D.; Danis, L.; Gong, X.-Q.; Shao, Q.; Liu, X.; Veinot, J. P.; Tang, A. S. L.; Stewart, A. F. R.; Tesson, F.; Klein, G. J.; Yee, R.; Skanes, A. C.; Guiraudon, G. M.; Ebihara, L.; Bai, D. : Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. New Eng. J. Med. 354: 2677-2688, 2006. | ||||||
| Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann Neurol. 1996 Jun;39(6):712-23. | ||||||
| Gomez-Herreros, F., Schuurs-Hoeijmakers, J. H. M., McCormack, M., Greally, M. T., Rulten, S., Romero-Granados, R., Counihan, T. J., Chaila, E., Conroy, J., Ennis, S., Delanty, N., Cortes-Ledesma, F., de Brouwer, A. P. M., Cavalleri, G. L., El-Khamisy, S. F., de Vries, B. B. A., Caldecott, K. W. TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function. Nature Genet. 46: 516-521, 2014. | ||||||
| Gomez-Hurtado, N., Boczek, N. J., Kryshtal, D. O., Johnson, C. N., Sun, J., Nitu, F. R., Cornea, R. L., Chazin, W. J., Calvert, M. L., Tester, D. J., Ackerman, M. J., Knollmann, B. C. Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic Ca waves and sparks. Circ. Arrhythm. Electrophysiol. 9: e004161, 2016. Note: Electronic | ||||||
| Gomez, C. M.; Maselli, R. A.; Vohra, B. P. S.; Navedo, M.; Stiles, J. R.; Charnet, P.; Schott, K.; Rojas, L.; Keesey, J.; Verity, A.; Wollmann, R. W.; Lasalde-Dominicci, J. : Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann. Neurol. 51: 102-112, 2002. | ||||||
| Gommans, I. M. P.; Davis, M.; Saar, K.; Lammens, M.; Mastaglia, F.; Lamont, P.; van Duijnhoven, G.; ter Laak, H. J.; Reis, A.; Vogels, O. J. M.; Laing, N.; van Engelen, B. G. M.; Kremer, H. : A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain 126: 1545-1551, 2003 | ||||||
| Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A. Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8. | ||||||
| Gonzaga-Jauregui C, Lotze T, Jamal L, et al. Mutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy Plus Microcephaly. JAMA Neurol 2013 | ||||||
| Gonzalez M, McLaughlin H, Houlden H, et al. Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2. J Neurol Neurosurg Psychiatry 2013; 84:1247–1249 | ||||||
| Gonzalez, M. A., Feely, S. M., Speziani, F., Strickland, A. V., Danzi, M., Bacon, C., Lee, Y., Chou, T.-F., Blanton, S. H., Weihl, C. C., Zuchner, S., Shy, M. E. A novel mutation in VCP causes Charcot-Marie-Tooth type 2 disease. Brain 137: 2897-2902, 2014. | ||||||
| Gonzalez, M., Nampoothiri, S., Kornblum, C., Oteyza, A. C., Walter, J., Konidari, I., Hulme, W., Speziani, F., Schols, L., Zuchner, S., Schule, R. Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Europ. J. Hum. Genet. 21: 1214-1218, 2013 | ||||||
| Gopinath S, Blair IP, Kennerson ML, Durnall JC, Nicholson GA. A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36. Hum Genet. 2007 Jun;121(5):559-64. Epub 2007 Mar 13. | ||||||
| Gotoda T, Arita M, Arai H, Inoue K, Yokota T, Fukuo Y, Yazaki Y, Yamada N. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. N Engl J Med. 1995 Nov 16;333(20):1313-8. | ||||||
| Gotz, A., Tyynismaa, H., Euro, L., Ellonen, P., Hyotylainen, T., Ojala, T., Hamalainen, R. H., Tommiska, J., Raivio, T., Oresic, M., Karikoski, R., Tammela, O., Simola, K. O., Paetau, A., Tyni, T., Suomalainen, A. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am. J. Hum. Genet. 88: 635-642, 2011. | ||||||
| Gouw LG, Kaplan CD, Haines JH, Digre KB, Rutledge SL, Matilla A, Leppert M, Zoghbi HY, Ptacek LJ. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nat Genet. 1995 May;10(1):89-93. | ||||||
| Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet. 2010 Mar 12;86(3):485-9. Epub 2010 Mar 4. | ||||||
| Greenberg, S. A., Salajegheh, M., Judge, D. P., Feldman, M. W., Kuncl, R. W., Waldon, Z., Steen, H., Wagner, K. R. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann. Neurol. 71: 141-145, 2012. | ||||||
| Greenway MJ, Andersen PM, Russ C, Ennis S, Cashman S, Donaghy C, Patterson V, Swingler R, Kieran D, Prehn J, Morrison KE, Green A, Acharya KR, Brown RH, Jr. and Hardiman O. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nat Genet 2006;38:411-3. Pub Med ID : 16501576 | ||||||
| Griggs R, Vihola A, Hackman P, Talvinen K, Haravuori H, Faulkner G, Eymard B, Richard I, Selcen D, Engel A, Carpen O, Udd B. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130: 1477-84. | ||||||
| Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res. 2003 Jan 10;92(1):14-22. | ||||||
| Grohmann K, Wienker TF, Saar K, Rudnik-Schoneborn S, Stoltenburg-Didinger G, Rossi R, Novelli G, Nurnberg G, Pfeufer A, Wirth B, Reis A, Zerres K, Hubner C. Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21. Am J Hum Genet. 1999 Nov;65(5):1459-62. No abstract available. | ||||||
| Gros-Louis, F., Lariviere, R., Gowing, G., Laurent, S., Camu, W., Bouchard, J.-P., Meininger, V., Rouleau, G. A., Julien, J.-P. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J. Biol. Chem. 279: 45951-45956, 2004. | ||||||
| Gros-Louis, F.; Dupre, N.; Dion, P.; Fox, M. A.; Laurent, S.; Verreault, S.; Sanes, J. R.; Bouchard, J.-P.; Rouleau, G. A. : Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nature Genet. 39: 80-85, 2007. | ||||||
| Gualandi F, Urciuolo A, Martoni E, Sabatelli P, Squarzoni S, Bovolenta M, Messina S, Mercuri E, Franchella A, Ferlini A, Bonaldo P, Merlini L. Neurology. 2009 Dec 1;73(22):1883-91. Autosomal recessive Bethlem myopathy. | ||||||
| Gudbjartsson, D F; Arnar, D O; Helgadottir, A; Gretarsdottir, S; Holm, H; Sigurdsson, A; Jonasdottir, A; Baker, A; Thorleifsson, G; Kristjansson, K; Palsson, A; Blondal, T; and 28 others : Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 448: 353-357, 2007. | ||||||
| Gudbjartsson, D. F.; Holm, H.; Gretarsdottir, S.; Thorleifsson, G.; Walters, G. B.; Thorgeirsson, G.; Gulcher, J.; Mathiesen, E. B.; Njolstad, I.; Nyrnes, A.; Wilsgaard, T.; Hald, E. M.; and 31 others. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nature Genet. 41: 876-878, 2009. | ||||||
| Guelly, C., Zhu, P.-P., Leonardis, L., Papic, L., Zidar, J., Schabhuttl, M., Strohmaier, H., Weis, J., Strom, T. M., Baets, J., Willems, J., De Jonghe, P., Reilly, M. M., Frohlich, E., Hatz, M., Trajanoski, S., Pieber, T. R., Janecke, A. R., Blackstone, C., Auer-Grumbach, M. Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88: 99-105, 2011 | ||||||
| Gueneau L, Bertrand AT, Jais JP, Salih MA, Stojkovic T, Wehnert M, Hoeltzenbein M, Spuler S, Saitoh S, Verschueren A, Tranchant C, Beuvin M, Lacene E, Romero NB, Heath S, Zelenika D, Voit T, Eymard B, Ben Yaou R, Bonne G. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2009 Sep;85(3):338-53. Epub 2009 Aug 27. | ||||||
| Guergueltcheva, V., Azmanov, D. N., Angelicheva, D., Smith, K. R., Chamova, T., Florez, L., Bynevelt, M., Nguyen, T., Cherninkova, S., Bojinova, V., Kaprelyan, A., Angelova, L., Morar, B., Chandler, D., Kaneva, R., Bahlo, M., Tournev, I., Kalaydjieva, L. Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am. J. Hum. Genet. 91: 553-564, 2012. | ||||||
| Guernsey, D. L., Jiang, H., Bedard, K., Evans, S. C., Ferguson, M., Matsuoka, M., Macgillivray, C., Nightingale, M., Perry, S., Rideout, A. L., Orr, A., Ludman, M., Skidmore, D. L., Benstread, T., Samuels, M. E. Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLOS Genet. 6: e1001081, 2010. Note: Electronic Article. | ||||||
| Guiloff RJ, Thomas PK, Contreras M, Armitage S, Schwarz G, Sedgwick EM. Evidence for linkage of type I hereditary motor and sensory neuropathy to the Duffy locus on chromosome 1. Ann Hum Genet. 1982 Jan 1;46(Pt 1):25-7. No abstract available. | ||||||
| Guissart, C., Li, X., Leheup, B., Drouot, N., Montaut-Verient, B., Raffo, E., Jonveaux, P., Roux, A.-F., Claustres, M., Fliegel, L., Koenig, M. Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome. Hum. Molec. Genet. 24: 463-470, 2015. | ||||||
| Gundesli, H., Talim, B., Korkusuz, P., Balci-Hayta, B., Cirak, S., Akarsu, N. A., Topaloglu, H., Dincer, P. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am. J. Hum. Genet. 87: 834-841, 2010. | ||||||
| Gupta, V. A., Ravenscroft, G., Shaheen, R., Todd, E. J., Swanson, L. C., Shiina, M., Ogata, K., Hsu, C., Clarke, N. F., Darras, B. T., Farrar, M. A., Hashem, A., and 18 others. Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy. Am. J. Hum. Genet. 93: 1108-1117, 2013. | ||||||
| Gurgel-Giannetti J, Lynch DS, Paiva ARB, Lucato LT, Yamamoto G, Thomsen C, Basu S, Freua F, Giannetti AV, de Assis BDR, Ribeiro MDO, Barcelos I, Sayão Souza K, Monti F, Melo US, Amorim S, Silva LGL, Macedo-Souza LI, Vianna-Morgante AM, Hirano M, Van der Knaap MS, Lill R, Vainzof M, Oldfors A, Houlden H, Kok F. A novel complex neurological phenotype due to a homozygous mutation in FDX2. Brain. 2018 Aug 1;141(8):2289-2298. doi: 10.1093/brain/awy172. | ||||||
| Gurnett, C. A., Desruisseau, D. M., McCall, K., Choi, R., Meyer, Z. I., Talerico, M., Miller, S. E., Ju, J.-S., Pestronk, A., Connolly, A. M., Druley, T. E., Weihl, C. C., Dobbs, M. B. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Molec. Genet. 19: 1165-1173, 2010. | ||||||
| Habib, A. M., Matsuyama, A., Okorokov, A. L., Santana-Varela, S., Bras, J. T., Aloisi, A. M., Emery, E. C., Bogdanov, Y. D., Follenfant, M., Gossage, S. J., Gras, M., Humphrey, J., and 21 others. A novel human pain insensitivity disorder caused by a point mutation in ZFHX2. Brain 141: 365-376, 2018. | ||||||
| Hackman, P., Sarparanta, J., Lehtinen, S., Vihola, A., Evila, A., Jonson, P. H., Luque, H., Kere, J., Screen, M., Chinnery, P. F., Ahlberg, G., Edstrom, L., Udd, B. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 73: 500-509, 2013. | ||||||
| Hackman, P.; Vihola, A.; Haravuori, H.; Marchand, S.; Sarparanta, J.; de Seze, J.; Labeit, S.; Witt, C.; Peltonen, L.; Richard, I.; Udd, B. : Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am. J. Hum. Genet. 71: 492-500, 2002. | ||||||
| Haghighi, K.; Kolokathis, F.; Gramolini, A. O.; Waggoner, J. R.; Pater, L.; Lynch, R. A.; Fan, G. C.; Tsiapras, D.; Parekh, R. R.; Dorn, G. W., 2nd; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G.A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Nat. Acad. Sci. 103: 1388-1393, 2006. | ||||||
| Haghighi, K.; Kolokathis, F.; Pater, L.; Lynch, R. A.; Asahi, M.; Gramolini, A. O.; Fan, G.-C.; Tsiapras, D.; Hahn, H. S.; Adamopoulos, S.; Liggett, S. B.; Dorn, G. W., II; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G. :Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111: 869-876, 2003. | ||||||
| Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005 | ||||||
| Hakui, H., Kioka, H., Miyashita, Y., Nishimura, S., Matsuoka, K., Kato, H., Tsukamoto, O., Kuramoto, Y., Takuwa, A., Takahashi, Y., Saito, S., Ohta, K., and 10 others. Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation. Sci. Transl. Med. 14: eabf3274, 2022 | ||||||
| Hamanaka K, ?ikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020 Jun 9;94(23):e2441-e2447. doi: 10.1212/WNL.0000000000009617. Epub 2020 May 28. PMID: 32467133; PMCID: PMC7455367. | ||||||
| Hammer, M. B., Eleuch-Fayache, G., Schottlaender, L. V., Nehdi, H., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Hernandez, D. G., Sailer, A., Liu, G., Mistry, P. K., Cai, H., Shrader, G., Sassi, C., Bouhlal, Y., Houlden, H., Hentati, F., Amouri, R., Singleton, A. B. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am. J. Hum. Genet. 92: 245-251, 2013. | ||||||
| Hand, C. K.; Khoris, J.; Salachas, F.; Gros-Louis, F.; Simoes Lopes, A. A.; Mayeux-Portas, V.; Brewer, C. G.; Brown, R. H., Jr.; Meininger, V.; Camu, W.; Rouleau, G. A. : A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70: 251-256, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1007 only, 2002. | ||||||
| Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A and Stevanin G. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007. | ||||||
| Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. | ||||||
| Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., , Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. A dystroglycan mutation associated with limb-girdle muscular dystrophy. New Eng. J. Med. 364: 939-946, 2011. | ||||||
| Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet. 1998 Mar;62(3):620-6. Neuromuscul Disord. 2004 Mar;14(3):183-7 | ||||||
| Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestila M, Udd B. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord. 2004 Mar;14(3):183-7. | ||||||
| Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 2001 Apr 10;56(7):869-77. | ||||||
| Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545-6. | ||||||
| Harms MB, Allred P, Gardner R, Jr et al. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010;75:539-46. | ||||||
| Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14. | ||||||
| Harms, M. B., Allred, P., Gardner, R., Jr., Fernandes Filho, J. A., Florence, J., Pestronk, A., Al-Lozi, M., Baloh, R. H. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 75: 539-546, 2010. | ||||||
| Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., Miller, L. J., Jani-Acsadi, A., Pestronk, A., Shy, M. E., Muntoni, F., Vallee, R. B., Baloh, R. H. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78: 1714-1720, 2012. | ||||||
| Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nature Med. 15: 1281-1288, 2009. | ||||||
| Haubenberger, D.; Bittner, R. E.; Rauch-Shorny, S.; Zimprich, F.; Mannhalter, C.; Wagner, L.; Mineva, I.; Vass, K.; Auff, E.; Zimprich, A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 65: 1304-1305, 2005. | ||||||
| Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7. | ||||||
| Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8. | ||||||
| Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33. | ||||||
| Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44: 2192-2201, 2004. | ||||||
| Hayashi, T.; Arimura, T.; Ueda, K.; Shibata, H.; Hohda, S.; Takahashi, M.; Hori, H.; Koga, Y.; Oka, N.; Imaizumi, T.; Yasunami, M.; Kimura, A.: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 313: 178-184, 2004. | ||||||
| Hayashi, Y. K.; Chou, F.-L.; Engvall, E.; Ogawa, M.; Matsuda, C.; Hirabayashi, S.; Yokochi, K.; Ziober, B. L.; Kramer, R. H.; Kaufman, S. J.; Ozawa, E.; Goto, Y.; Nonaka, I.; Tsukahara, T.; Wang, J.; Hoffman, E. P.; Arahata, K. : Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet. 19: 94-97, 1998. | ||||||
| Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994 Sep;3(9):1569-73. | ||||||
| Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct;5(2):163-7. | ||||||
| He J, Liu XX, Ma MM, Lin JJ, Fu J, Chen YK, Xu GR, Xu LQ, Fu ZF, Xu D, Chen WF, Cao CY, Shi Y, Zeng YH, Zhang J, Chen XC, Zhang RX, Wang N, Kennerson M, Fan DS, Chen WJ. Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease. Ann Neurol. 2023 Feb;93(2):244-256. doi: 10.1002/ana.26501. Epub 2022 Sep 28. PMID: 36088542. | ||||||
| Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7. | ||||||
| Hedberg-Oldfors, C., Abramsson, A., Osborn, D. P. S., Danielsson, O., Fazlinezhad, A., Nilipour, Y., Hubbert, L., Nennesmo, I., Visuttijai, K., Bharj, J., Petropoulou, E., Shoreim, A., and 12 others. Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24. Hum. Molec. Genet. 28: 1919-1929, 2019. [PubMed: 30715372 | ||||||
| Hedberg-Oldfors, C., Darin, N., Olsson Engman, M., Orfanos, Z., Thomsen, C., van der Ven, P. F. M., Oldfors, A. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Europ. J. Hum. Genet. 24: 1771-1777, 2016. | ||||||
| Hedberg-Oldfors, C., Meyer, R., Nolte, K., Abdul Rahim, Y., Lindberg, C., Karason, K., Thuestad, I. J., Visuttijai, K., Geijer, M., Begemann, M., Kraft, F., Lausberg, E., and 12 others. Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles. Brain 143: 2406-2420, 2020. | ||||||
| Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A., Bertini, E. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. J. Neurol. 261: 870-876, 2014. | ||||||
| Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. | ||||||
| Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., Killen, P. D., Raphael, Y., and 44 others. COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J. Clin. Invest. 121: 2013-2024, 2011. | ||||||
| Heine, R.; Pika, U.; Lehmann-Horn, F. : A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Molec. Genet. 2: 1349-1353, 1993. | ||||||
| Hekman, K. E., Yu, G.-Y., Brown, C. D., Zhu, H., Du, X., Gervin, K., Undlien, D. E., Peterson, A., Stevanin, G., Clark, H. B., Pulst, S. M., Bird, T. D., White, K. P., Gomez, C. M. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum. Molec. Genet. 21: 5472-5483, 2012. | ||||||
| Helbling DC, Mendoza D, McCarrier J, Vanden Avond MA, Harmelink MM, Barkhaus PE, Basel D, Lawlor MW. Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy. J Neuropathol Exp Neurol. 2019 Mar 1;78(3):283-287. doi: 10.1093/jnen/nlz004. PubMed PMID: 30715496; PubMed Central PMCID: PMC6380315. | ||||||
| Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct;11(2):216-8. | ||||||
| Hellenbroich, Y.; Bubel, S.; Pawlack, H.; Opitz, S.; Vieregge, P.; Schwinger, E.; Zuhlke, C. : Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J. Neurol. 250: 668-671, 2003. | ||||||
| Hennekam, R. C. M., Barth, P. G., Van Lookeren Campagne, W., De Visser, M., Dingemans, K. P. A family with severe X-linked arthrogryposis. Europ. J. Pediat. 150: 656-660, 1991. [PubMed: 1915520, related citations] [Full Text] | ||||||
| Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 1994 Jul;7(3):425-8. | ||||||
| Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 1992 Jan;12(1):155-7. | ||||||
| Hentati, A.; Ouahchi, K.; Pericak-Vance, M. A.; Nijhawan, D.; Ahmad, A.; Yang, Y.; Rimmler, J.; Hung, W.-Y.; Schlotter, B.; Ahmed, A.; Ben Hamida, M.; Hentati, F.; Siddique, T. : Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2: 55-60, 1998. | ||||||
| Hentati, A.; Pericak-Vance, M. A.; Hung, W.-Y.; Belal, S.; Laing, N.; Boustany, R.-M.; Hentati, F.; Ben Hamida, M.; Siddique, T. : Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Molec. Genet. 3: 1263-1267, 1994. | ||||||
| Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Durr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000 Jul;67(1):229-35. Epub 2000 May 11. | ||||||
| Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzalez, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmuller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Littleton, J. T., Zuchner, S. Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. Am. J. Hum. Genet. 95: 332-339, 2014. Note: Erratum: Am. J. Hum. Genet. 95: 472 only, 2014. | ||||||
| Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963 Jan;86:11-6. | ||||||
| Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. Epub 2010 Mar 9. | ||||||
| Hicks D, , Sarkozy A, Muelas N, Kohle K, Huebner A, Hudson G, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes P, Roberts R, Krause S, Walter M, Laval S, Straub V, Lochmuller H and Bushby K. A Founder Mutation in Anoctamin 5 is a Major Cause of Limb Girdle Muscular Dystrophy. (Brain, 2010, in press) | ||||||
| Higuchi Y, Okunushi R, Hara T, Hashiguchi A, Yuan J, Yoshimura A, Murayama K, Ohtake A, Ando M, Hiramatsu Y, Ishihara S, Tanabe H, Okamoto Y, Matsuura E, Ueda T, Toda T, Yamashita S, Yamada K, Koide T, Yaguchi H, Mitsui J, Ishiura H, Yoshimura J, Doi K, Morishita S, Sato K, Nakagawa M, Yamaguchi M, Tsuji S, Takashima H. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain. 2018 Jun 1;141(6):1622-1636. doi: 10.1093/brain/awy104. | ||||||
| Higuchi, I.; Shiraishi, T.; Hashiguchi, T,; Suehara, M.; Niiyama, T.; Nakagawa, M.; Arimura, K.; Maruyama, I.; Osame, M. : Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann. Neurol. 50: 261-265, 2001. | ||||||
| Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., Okamoto, Y., Matsuura, E., and 21 others. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann. Neurol. 79: 659-672, 2016. | ||||||
| Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet. 1994 Sep;3(9):1657-61. | ||||||
| Hills, L. B., Masri, A., Konno, K., Kakegawa, W., Lam, A.-T. N., Lim-Melia, E., Chandy, N., Hill, R. S., Partlow, J. N., Al-Saffar, M., Nasir, R., Stoler, J. M., Barkovich, A. J., Watanabe, M., Yuzaki, M., Mochida, G. H. Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans. Neurology 81: 1378-1386, 2013. | ||||||
| Hiraide T, Fukumura S, Yamamoto A, Nakashima M, Saitsu H. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance. Brain Dev. 2021 Mar;43(3):470-474. doi: 10.1016/j.braindev.2020.10.010. Epub 2020 Nov 14. PMID: 33199157 | ||||||
| Hirata, H., Nanda, I., van Riesen, A., McMichael, G., Hu, H., Hambrock, M., Papon, M.-A., Fischer, U., Marouillat, S., Ding, C., Alirol, S., Bienek, M., and 32 others. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am. J. Hum. Genet. 92: 681-695, 2013. [PubMed: 23623388, images, related citations] [Full Text] | ||||||
| Hoch, N. C., Hanzlikova, H., Rulten, S. L., Tetreault, M., Komulainen, E., Ju, L., Hornyak, P., Zeng, Z., Gittens, W., Rey, S. A., Staras, K., Mancini, G. M. S., McKinnon, P. J., Wang, Z.-Q., Wagner, J. D., Care4Rare Canada Consortium, Yoon, G., Caldecott, K. W. XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. Nature 541: 87-91, 2017. | ||||||
| Hodgkinson, C. A.; Bohlega, S.; Abu-Amero, S. N.; Cupler, E.; Kambouris, M.; Meyer, B. F.; Bharucha, V. A. : A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59: 1905-1909, 2002. | ||||||
| Hodgson-Zingman, D. M.; Karst, M. L.; Zingman, L. V.; Heublein, D. M.; Darbar, D.; Herron, K. J.; Ballew, J. D.; de Andrade, M.; Burnett, J. C., Jr.; Olson, T. M. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. New Eng. J. Med. 359: 158-165, 2008. | ||||||
| Hodgson, S.; Boswinkel, E.; Cole, C.; Walker, A.; Dubowitz, V.; Granata, C.; Merlini, L.; Bobrow, M. : A linkage study of Emery-Dreifuss muscular dystrophy. Hum. Genet. 74: 409-416, 1986. | ||||||
| Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28. | ||||||
| Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363-8. | ||||||
| Hoffmann, K.; M²ºller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochm²ºller, H.; Hubner, C.; Mundlos, S. : Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet. 79: 303-312, 2006. | ||||||
| Hollstein, R., Parry, D. A., Nalbach, L., Logan, C. V., Strom, T. M., Hartill, V. L., Carr, I. M., Korenke, G. C., Uppal, S., Ahmed, M., Wieland, T., Markham, A. F., Bennett, C. P., Gillessen-Kaesbach, G., Sheridan, E. G., Kaiser, F. J., Bonthron, D. T. HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. J. Med. Genet. 52: 797-803, 2015. | ||||||
| Holm, H., Gudbjartsson, D. F., Sulem, P., Masson, G., Helgadottir, H., Zanon, C., Magnusson, O., Helgason, A., Saemundsdottir, J., Gylfason, A., Stefansdottir, H., Gretarsdottir, S., and 18 others. A rare variant in MYH6 is associated with high risk of sick sinus syndrome. Nature Genet. 43: 316-320, 2011. | ||||||
| Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2. | ||||||
| Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ. A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease. J Clin Neurol. 2021 Oct;17(4):534-540. doi: 10.3988/jcn.2021.17.4.534. PMID: 34595861; PMCID: PMC8490901. | ||||||
| Hong Y.B., Kang J., Kim J.H., et al. DGAT2 mutation in a family with autosomal-dominant early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat 2016;37:473–80. | ||||||
| Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. | ||||||
| Horstick, E. J., Linsley, J. W., Dowling, J. J., Hauser, M. A., McDonald, K. K., Ashley-Koch, A., Saint-Amant, L., Satish, A., Cui, W. W., Zhou, W., Sprague, S. M., Stamm, D. S., Powell, C. M., Speer, M. C., Franzini-Armstrong, C., Hirata, H., Kuwada, J. Y. Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. Nature Commun. 4: 1952, 2013. | ||||||
| Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. Epub 2007 Nov 25. | ||||||
| Hu H., Matter M.L., Issa-Jahns L., Jijiwa M., Kraemer N., Musante L., et al. Mutations in PTRH2 cause novel infantileonset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann. Clin. Transl. Neurol. 1: 1024-1035, 2014. | ||||||
| Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2: 270-278, 2009. | ||||||
| Huang, J., Han, C., Estacion, M., Vasylyev, D., Hoeijmakers, J. G., Gerrits, M. M., Tyrrell, L., Lauria, G., Faber, C. G., Dib-Hajj, S. D., Merkies, I. S. J., Waxman, S. G. Gain-of-function mutations in sodium channel Na(v)1.9 in painful neuropathy. Brain 137: 1627-1642, 2014. | ||||||
| Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7. | ||||||
| Hughes, C. A.; Byrne, P. C.; Webb, S.; McMonagle, P.; Patterson, V.; Hutchinson, M.; Parfrey, N. A. : SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56: 1230-1233, 2001. | ||||||
| Huizing, M.; Iacobazzi, V.; IJlst, L.; Savelkoul, P.; Ruitenbeek, W.; van den Heuvel, L.; Indiveri, C.; Smeitink, J.; Trijbels, F; Wanders, R.; Palmieri, F. : Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am. J. Hum. Genet. 61: 1239-1245, 1997. | ||||||
| Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. Epub 2010 Mar 19. | ||||||
| Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L. Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8. | ||||||
| Huppke P, Wegener E, Gilley J, Angeletti C, Kurth I, Drenth JPH, Stadelmann C, Barrantes-Freer A, Brück W, Thiele H, Nürnberg P, Gärtner J, Orsomando G, Coleman MP. Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. Exp Neurol. 2019 Oct;320:112958. PMID: 31132363 | ||||||
| Husain, R. A., Grimmel, M., Wagner, M., Hennings, J. C., Marx, C., Feichtinger, R. G., Saadi, A., Rostasy, K., Radelfahr, F., Bevot, A., Dobler-Neumann, M., Hartmann, H., and 34 others. Bi-allelic HPDL variants cause a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia. Am. J. Hum. Genet. 107: 364-373, 2020.[PubMed: 32707086 | ||||||
| Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology. 2006 Dec 12;67(11):2016-21. | ||||||
| Huz²© C, Bauch²© S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, R²ºegg MA, Koenig J, Eymard B, Schaeffer L, Hanta²Ø D. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet. 2009 Aug;85(2):155-67. Epub 2009 Jul 23. | ||||||
| Ichida, F.; Tsubata, S.; Bowles, K. R.; Haneda, N.; Uese, K.; Miyawaki, T.; Dreyer, W. J.; Messina, J.; Li, H.; Bowles, N. E.; Towbin, J. A. : Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103: 1256-1263, 2001. | ||||||
| Ikeda, Y.; Dick, K. A.; Weatherspoon, M. R.; Gincel, D.; Armbrust, K. R.; Dalton, J. C.; Stevanin, G.; Durr, A.; Zuhlke, C.; Burk, K.; Clark, H. B.; Brice, A.; Rothstein, J. D.; Schut, L. J.; Day, J. W.; Ranum, L. P. W. : Spectrin mutations cause spinocerebellar ataxia type 5. Nature Genet. 38: 184-190, 2006. | ||||||
| Ikeuchi T, Asaka T, Saito M, Tanaka H, Higuchi S, Tanaka K, Saida K, Uyama E, Mizusawa H, Fukuhara N, Nonaka I, Takamori M, Tsuji S. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol. 1997 Apr;41(4):432-7. | ||||||
| Ikeuchi, T.; Shimohata, T.; Nakano, R.; Koide, R.; Takano, H.; Tsuji, S. : A case of primary torsion dystonia in Japan with the 3-bp (GAG) deletion in the DYT1 gene with a unique clinical presentation. Neurogenetics 2: 189-190, 1999. | ||||||
| Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al. Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet. 1994 Jun;3(6):969-75. | ||||||
| Imbert G, Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel JL, Cancel G, Abbas N, Durr A, Didierjean O, Stevanin G, Agid Y, Brice A. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet. 1996 Nov;14(3):285-91. | ||||||
| Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A. Alpha B-crystallin mutation in dilated cardiomyopathy. Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8. | ||||||
| Indo, Y., Tsuruta, M., Hayashida, Y., Karim, M. A., Ohta, K., Kawano, T., Mitsubuchi, H., Tonoki, H., Awaya, Y., Matsuda, I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nature Genet. 13: 485-488, 1996. | ||||||
| Indo, Y.; Glassberg, R.; Yokota, I.; Tanaka, K. : Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient. Am. J. Hum. Genet. 49: 575-580, 1991. | ||||||
| Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I. COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. Ann Neurol. 2019 Jun 2. doi: 10.1002/ana.25517. | ||||||
| Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996 Sep;5(9):1373-5. | ||||||
| Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992 Mar;15(3):368-73. | ||||||
| Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. Review. | ||||||
| Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. | ||||||
| Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. PMID:31332380 | ||||||
| Ismailov, S. M.; Fedotov, V. P.; Dadali, E. L.; Polyakov, A. V.; Van Broeckhoven, C.; Ivanov, V. I.; De Jonghe, P.; Timmerman, V.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Europ. J. Hum. Genet. 9: 646-650, 2001 | ||||||
| Isozumi, K.; DeLong, R.; Kaplan, J.; Deng, H.-X.; Iqbal, Z.; Hung, W.-Y.; Wilhelmsen, K. C.; Hentati, A.; Pericak-Vance, M. A.; Siddique, T. : Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. Hum. Molec. Genet. 5: 1377-1382, 1996. | ||||||
| Itoh-Satoh, M.; Hayashi, T.; Nishi, H.; Koga, Y.; Arimura, T.; Koyanagi, T.; Takahashi, M.; Hohda, S.; Ueda, K.; Nouchi, T.; Hiroe, M.; Marumo, F.; Imaizumi, T.; Yasunami, M.; Kimura, A. : Titin mutations as the molecular basis for dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 291: 385-393, 2002. | ||||||
| Iuso, A., Wiersma, M., Schuller, H.-J., Pode-Shakked, B., Marek-Yagel, D., Grigat, M., Schwarzmayr, T., Berutti, R., Alhaddad, B., Kanon, B., Grzeschik, N. A., Okun, J. G., and 26 others. Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102: 1018-1030, 2018.[PubMed: 29754768] | ||||||
| Izumi R., Warita H., Niihori T., et al. Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurol Genet 2015;1:e23. | ||||||
| Jackson JF, Currier RD, Terasaki PI, Morton NE. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. N Engl J Med. 1977 May 19;296(20):1138-41. | ||||||
| Jacquier, A., Theuriet, J., Fontaine, F., Mosbach, V., Lacoste, N., Ribault, S., Risson, V., Carras, J., Coudert, L., Simonet, T., Latour, P., Stojkovic, T., Piard, J., Cosson, A., Lesca, G., Bouhour, F., Allouche, S., Puccio, H., Pegat, A., Schaeffer, L. Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy. Brain 146: 3470-3483, 2023. [PubMed: 36454683, images, related citations] [Full Text] | ||||||
| Jae, L. T., Raaben, M., Riemersma, M., van Beusekom, E., Blomen, V. A., Velds, A., Kerkhoven, R. M., Carette, J. E., Topaloglu, H., Meinecke, P., Wessels, M. W., Lefeber, D. J., Whelan, S. P., van Bokhoven, H., Brummelkamp, T. R. Deciphering the glycosylome of dystroglycanopathies using haploid screens for Lassa virus entry. Science 340: 479-483, 2013. | ||||||
| Jansen, G. A.; Ofman, R.; Ferdinandusse, S.; Ijlst, L.; Muijsers, A. O.; Skjeldal, O. H.; Stokke, O.; Jakobs, C.; Besley, G. T. N.; Wraith, J. E.; Wanders, R. J. A. : Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nature Genet. 17: 190-193, 1997. | ||||||
| Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8. | ||||||
| Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tetreault M, Loisel L, Bouchard JP and Brais B. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. Brain 2007;130:368-80. | ||||||
| Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC and Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain 2007;130:2484-93. | ||||||
| Jen, J. C.; Wan, J.; Palos, T. P.; Howard, B. D.; Baloh, R. W. : Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 65: 529-534, 2005. | ||||||
| Jiang, H., Zhu, H.-P., Gomez, C. M. 2010. SCA32: an autosomal dominant cerebellar ataxia with azoospermia maps to chromosome 7q32-q33. (Abstract) Mov. Disord. 25: S192 only,. | ||||||
| Jobling, R. K., Assoum, M., Gakh, O., Blaser, S., Raiman, J. A., Mignot, C., Roze, E., Durr, A., Brice, A., Levy, N., Prasad, C., Paton, T., and 11 others. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain 138: 1505-1517, 2015.[PubMed: 25808372 | ||||||
| Jobsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet. 1996 Sep;14(1):113-5. | ||||||
| Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997 Oct;6(11):1973-8. | ||||||
| Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol. 2021 Aug;142(2):375-393. doi: 10.1007/s00401-021-02319-x. Epub 2021 May 11. PMID: 33974137; PMCID: PMC8270885. | ||||||
| Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simón-Sánchez J, Clayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep;135(Pt 9):2875-82. Epub 2012 Jun 26. | ||||||
| Johnson, J. O., Mandrioli, J., Benatar, M., Abramzon, Y., Van Deerlin, V. M., Trojanowski, J. Q., Gibbs, J. R., Brunetti, M., Gronka, S., Wuu, J., Ding, J., McCluskey, L., and 25 others. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68: 857-864, 2010. Note: Erratum: Neuron 69: 397 only, 2011. | ||||||
| Johnson, J. O., Pioro, E. P., Boehringer, A., Chia, R., Feit, H., Renton, A. E., Pliner, H. A., Abramzon, Y., Marangi, G., Winborn, B. J., Gibbs, J.R., Nalls, M. A., and 30 others. Mutations in the matrin 3 gene cause familial amyotrophic lateral sclerosis. Nature Neurosci. 17: 664-666, 2014. | ||||||
| Johnston, J. J.; Kelley, R. I.; Crawford, T. O.; Morton, D. H.; Agarwala, R.; Koch, T.; Schaffer, A. A.; Francomano, C. A.; Biesecker, L. G. : A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am. J. Hum. Genet. 67: 814-821, 2000. | ||||||
| Jokela M, Lehtinen S, Palmio J, Saukkonen AM, Huovinen S, Vihola A, Udd B. A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy. J Neurol. 2019 Apr 8. doi: 10.1007/s00415-019-09307-y. Epub 2019 Apr 8. | ||||||
| Jones, E. G., Mazaheri, N., Maroofian, R., Zamani, M., Seifi, T., Sedaghat, A., Shariati, G., Jamshidi, Y., Allen, H. D., Wehrens, X. H. T., Galehdari, H., Landstrom, A. P. Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. Sci. Rep. 9: 9038, 2019 | ||||||
| Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D'Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V. Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy. Nat Genet. 2006 Feb;38(2):197-202. Epub 2006 Jan 22. | ||||||
| Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V. Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet. 2003 Dec;73(6):1423-30. Epub 2003 Nov 6. | ||||||
| Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.-J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. C.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V. : Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126: 590-597, 2003. | ||||||
| Josifova, D. J., Monroe, G. R., Tessadori, F., de Graaff, E., van der Zwaag, B., Mehta, S. G., the DDD study, Harakalova, M., Duran, K. J., Savelberg, S. M. C., Nijman, I. J., Jungbluth, H., Hoogenraad, C. C., Bakkers, J., Knoers, N. V., Firth, H. V., Beales, P. L., van Haaften, G., van Haelst, M. M. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. Hum. Molec. Genet. 25: 2158-2167, 2016. | ||||||
| Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7. | ||||||
| Julius Rönkkö, Svetlana Molchanova, Anya Revah-Politi, Elaine M Pereira, Mari Auranen, Jussi Toppila, Jouni Kvist, Anastasia Ludwig , Julika Neumann , Geert Bultynck , Stéphanie Humblet-Baron , Adrian Liston, Anders Paetau, Claudio Rivera, Matthew B Harms, Henna Tyynismaa, Emil Ylikallio Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease Ann Clin Transl Neurol. 2020 Oct;7(10):1962-1972. | ||||||
| Jung, M., I. Poepping, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A, Osterziel KJ.. (1999). Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel locus on chromosome 2q14-q22. Am J Hum Genet 65(4): 1068-77. | ||||||
| Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb S A, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry C A, Muller C, Muntoni F. Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005; 65: 1930-5. | ||||||
| Jungbluth, H.; Muller, C. R.; Halliger-Keller, B.; Brockington, M.; Brown, S. C.; Feng, L.; Chattopadhyay, A.; Mercuri, E.; Manzur, A. Y.; Ferreiro, A.; Laing, N. G.; Davis, M. R.; Roper, H. P.; Dubowitz, V.; Bydder, G.; Sewry, C. A.; Muntoni, F. : Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 59: 284-287, 2002. | ||||||
| Jurkat-Rott K, Lehmann-Horn F, Elbaz A, Heine R, Gregg RG, Hogan K, Powers PA, Lapie P, Vale-Santos JE, Weissenbach J, et al. A calcium channel mutation causing hypokalemic periodic paralysis. Hum Mol Genet. 1994 Aug;3(8):1415-9. | ||||||
| Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54. | ||||||
| Kalaydjieva L, Gresham D, Gooding R, Heather L, Baas F, de Jonge R, Blechschmidt K, Angelicheva D, Chandler D, Worsley P, Rosenthal A, King RH, Thomas PK. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. Epub 2000 May 30. | ||||||
| Kalaydjieva L, Hallmayer J, Chandler D, Savov A, Nikolova A, Angelicheva D, King RH, Ishpekova B, Honeyman K, Calafell F, Shmarov A, Petrova J, Turnev I, Hristova A, Moskov M, Stancheva S, Petkova I, Bittles AH, Georgieva V, Middleton L, Thomas PK. Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 1996 Oct;14(2):214-7. | ||||||
| Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. | ||||||
| Kang L, Liu Y, Jin Y, Li M, Song J, Zhang Y, Zhang Y, Yang Y. Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy. Front Neurol. 2020 Jan 15;10:1335. doi: 10.3389/fneur.2019.01335. eCollection 2019. | ||||||
| Kanno T, Sudo K, Takeuchi I, Kanda S, Honda N, Nishimura Y, Oyama K. Bivariate ratio monitoring in clinical laboratories. Am J Clin Pathol. 1981 Dec;76(6):782-7. | ||||||
| Kara, E., Tucci, A., Manzoni, C., Lynch, D. S., Elpidorou, M., Bettencourt, C., Chelban, V., Manole, A., Hamed, S. A., Haridy, N. A., Federoff, M., Preza, E., and 17 others. genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139: 1904-1918, 2016. | ||||||
| Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 2000; 289: 782-785 | ||||||
| Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Muller CR. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics. 1991 Jul;10(3):765-9. | ||||||
| Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994 Nov;8(3):221-8. | ||||||
| Kawarai, T., Tajima, A., Kuroda, Y., Saji, N., Orlacchio, A., Terasawa, H., Shimizu, H., Kita, Y., Izumi, Y., Mitsui, T., Imoto, I., Kaji, R. A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. J. Neurol. Neurosurg. Psychiat. 87: 656-662, 2016. | ||||||
| Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I, Sharafi P, Gundesli H, Balci-Hayta B, Purali N, Serdaroglu-Oflazer P, Topaloglu H, Dincer P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscul Disord. 2014 Jul;24(7):624-33. doi: 10.1016/j.nmd.2014.04.007. Epub 2014 May 2. | ||||||
| Kayman-Kurekci, G., Korkusuz, P., Dincer, P. Response (to Sewry and Gobel). (Letter) Neuromusc. Disord. 24: 1122 only, 2014. | ||||||
| Kayman-Kurekci, G., Talim, B., Korkusuz, P., Sayar, N., Sarioglu, T., Oncel, I., Sharafi, P., Gundesli, H., Balci-Hayta, B., Purali, N., Serdaroglu-Oflazer, P., Topaloglu, H., Dincer, P. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromusc. Disord. 24: 624-633, 2014. | ||||||
| Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJ, et al. Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet. 1994 Oct;3(10):1855-8. | ||||||
| Kenna, K. P., van Doormaal, P. T., Dekker, A. M., Ticozzi, N., Kenna, B. J., Diekstra, F. P., van Rheenen, W., van Eijk, K. R., Jones, A. R., Keagle, P., Shatunov, A., Sproviero, W., and 70 others. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis. Nature Genet. 48: 1037-1042, 2016. | ||||||
| Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am J Hum Genet. 2010 Mar 12;86(3):343-52. Epub 2010 Feb 18. | ||||||
| Kennerson, M. L., Yiu, E. M., Chuang, D. T., Kidambi, A., Tso, S.-C., Ly, C., Chaudhry, R., Drew, A. P., Rance, G., Delatycki, M. B., Zuchner, S., Ryan, M. M., Nicholson, G. A. A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. Hum. Molec. Genet. 22: 1404-1416, 2013. | ||||||
| Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE. Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet. 1986 Jul;73(3):264-6. | ||||||
| Keppen LD, Leppert MF, O'Connell P, Nakamura Y, Stauffer D, Lathrop M, Lalouel JM, White R. Etiological heterogeneity in X-linked spastic paraplegia. Am J Hum Genet. 1987 Nov;41(5):933-43. | ||||||
| Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May;64(5):749-52. | ||||||
| Khati C, Stevanin G, Durr A, Chneiweiss H, Belal S, Seck A, Cann H, Brice A, Agid Y. Genetic heterogeneity of autosomal dominant cerebellar ataxia type 1: clinical and genetic analysis of 10 French families. Neurology. 1993 Jun;43(6):1131-7. | ||||||
| Kiiski KJ, Lehtokari VL, Vihola AK, et al. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Neuromuscul Disord. 2019;29(2):97-107. doi:10.1016/j.nmd.2018.12.007 | ||||||
| Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. PMID: 35484142; PMCID: PMC9050844. | ||||||
| Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5). Am J Hum Genet. 2007 Sep;81(3):552-8. Epub 2007 Jun 29. | ||||||
| Kim, H. J., Hong, Y. B., Park, J.-M., Choi, Y.-R., Kim, Y. J., Yoon, B. R., Koo, H., Yoo, J. H., Kim, S. B., Park, M., Chung, K. W., Choi, B.-O. Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease. Orphanet J. Rare Dis. 8: 104, 2013. Note: Electronic Article. | ||||||
| Kim, H. J., Kim, N. C., Wang, Y.-D., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B., Li, S., Molliex, A., and 25 others. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 495: 467-473, 2013. | ||||||
| Kim, M., Sandford, E., Gatica, D., Qiu, Y., Liu, X., Zheng, Y., Schulman, B. A., Xu, J., Semple, I., Ro, S.-H., Kim, B., Mavioglu, R. N., and 10 others. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. eLife 5: e12245, 2016. Note: Electronic Article. | ||||||
| Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology. 2006 Aug 22;67(4):597-601. | ||||||
| Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997 Aug;16(4):379-82. | ||||||
| Klaassen, S., Probst, S., Oechslin, E., Gerull, B., Krings, G., Schuler, P., Greutmann, M., Hurlimann, D., Yegibasi, M., Pons, L., Gramlich, M., Drenckhahn, J.-D., Heuser, A., Berger, F., Jenni, R., Thierfelder, L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117: 2893-2901, 2008. | ||||||
| Klar, J., Sobol, M., Melberg, A., Mabert, K., Ameur, A., Johansson, A. C. V., Feuk, L., Entesarian, M., Orlen, H., Casar-Borota, O., Dahl, N. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum. Mutat. 34: 572-577, 2013. | ||||||
| Klebe, S.; Azzedine, H.; Durr, A.; Bastien, P.; Bouslam, N.; Elleuch, N.; Forlani, S.; Charon, C.; Koenig, M.; Melki, J.; Brice, A.; Stevanin, G. : Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 129: 1456-1462, 2006. | ||||||
| Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., Simon, M., Lander, C., and 12 others. Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nature Genet. 43: 595-600, 2011. | ||||||
| Klein, C. J., Wu, Y., Vogel, P., Goebel, H. H., Bonnemann, C., Zukosky, K., Botuyan, M.-V., Duan, X., Middha, S., Atkinson, E. J., Mer, G., Dyck, P. J. Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology 82: 873-878, 2014. | ||||||
| Klein, C. J.; Cunningham, J. M.; Atkinson, E. J.; Schaid, D. J.; Hebbring, S. J.; Anderson, S. A.; Klein, D. M.; Dyck, P. J. B.; Litchy, W. J.; Thibodeau, S. N.; Dyck, P. J. : The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology 60: 1151-1156, 2003. | ||||||
| Klein, C.; Schilling, K.; Saunders-Pullman, R. J.; Garrels, J.; Breakefield, X. O.; Brin, M. F.; deLeon, D.; Doheny, D.; Fahn, S.; Fink, J. S.; Forsgren, L.; Friedman, J.; and 20 others : A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am. J. Hum. Genet. 67: 1314-1319, 2000. | ||||||
| Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schöneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hübner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet. 2016 Mar 3;98(3):473-89. doi: 10.1016/j.ajhg.2016.01.006. | ||||||
| Knierim, E., Gill, E., Seifert, F., Morales-Gonzalez, S., Unudurthi, S. D., Hund, T. J., Stenzel, W., Schuelke, M. A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. Hum. Genet. 136: 903-910, 2017. | ||||||
| Knight, M. A.; Gardner, R. J. M.; Bahlo, M.; Matsuura, T.; Dixon, J. A.; Forrest, S. M.; Storey, E. : Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 127: 1172-1181, 2004. | ||||||
| Knight, M. A.; Kennerson, M. L.; Anney, R. J.; Matsuura, T.; Nicholson, G. A.; Salimi-Tari, P.; Gardner, R. J. M.; Storey, E.; Forrest, S. M. : Spinocerebellar ataxia type 15 (SCA15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant. Neurobiol. Dis. 13: 147-157, 2003. | ||||||
| Knoll R, Postel R, Wang J, Kratzner R, Hennecke G, Vacaru AM, Vakeel P, Schubert C, Murthy K, Rana BK, Kube D, Knoll G, Schafer K, Hayashi T, Holm T, Kimura A, Schork N, Toliat MR, Nurnberg P, Schultheiss H-P, Schaper W, Schaper J, Bos E, Hertog JD, van Eeden FJM, Peters PJ, Hasenfuss G, Chien KR and Bakkers J. Laminin-{alpha}4 and Integrin-Linked Kinase Mutations Cause Human Cardiomyopathy Via Simultaneous Defects in Cardiomyocytes and Endothelial Cells. Circulation 2007;116:515-525. | ||||||
| Knoll, R.; Hoshijima, M.; Hoffman, H. M.; Person, V.; Lorenzen-Schmidt, I.; Bang, M.-L.; Hayashi, T.; Shiga, N.; Yasukawa, H.; Schaper, W.; McKenna, W.; Yokoyama, M.; and 9 others : The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111: 943-955, 2002. | ||||||
| Kobayashi H, Hoffman EP, Marks HG. The rumpshaker mutation in spastic paraplegia. Nat Genet. 1994 Jul;7(3):351-2. | ||||||
| Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998 Jul 23;394(6691):388-92 | ||||||
| Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H., Koizumi, A. Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet. 89: 121-130, 2011. | ||||||
| Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800. | ||||||
| Koch, M.; Harley, H.; Sarfarazi, M.; Bender, K.; Wienker, T.; Zoll, B.; Harper, P. S. : Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Hum. Genet. 82: 163-166, 1989. | ||||||
| Koenig M, Hoffman EP, Bertelson CJ, Monaco AP, Feener C, Kunkel LM. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987 Jul 31;50(3):509-17. | ||||||
| Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988 Apr 22;53(2):219-26. | ||||||
| Koide, R.; Kobayashi, S.; Shimohata, T.; Ikeuchi, T.; Maruyama, M.; Saito, M.; Yamada, M.; Takahashi, H.; Tsuji, S. : A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum. Molec. Genet. 8: 2047-2053, 1999. | ||||||
| Kok, C.; Kennerson, M. L.; Spring, P. J.; Ing, A. J.; Pollard, J. D.; Nicholson, G. A. : A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24. Am. J. Hum. Genet. 73: 632-637, 2003. | ||||||
| Kolb, S. J., Snyder, P. J., Poi, E. J., Renard, E. A., Bartlett, A., Gu, S., Sutton, S., Arnold, W. D., Freimer, M. L., Lawson, V. H., Kissel, J. T., Prior, T. W. Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach. Neurology 74: 502-506, 2010. | ||||||
| Kölbel H, Roos A, van der Ven PFM, Evangelista T, Nolte K, Johnson K, Töpf A, Wilson M, Kress W, Sickmann A, Straub V, Kollipara L, Weis J, Fürst DO, Schara U. First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC. Hum Mutat. 2020 Sep;41(9):1600-1614. doi: 10.1002/humu.24062. Epub 2020 Jul 11. PMID: 32516863 | ||||||
| Kollberg G, Tulinius M, Gilljam T, ²ñstman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E. Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med. 2007 Oct 11;357(15):1507-14. | ||||||
| Koob MD, Moseley ML, Schut LJ, Benzow KA, Bird TD, Day JW, Ranum LP. An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet. 1999 Apr;21(4):379-84. | ||||||
| Kornak, U., Mademan, I., Schinke, M., Voigt, M., Krawitz, P., Hecht, J., Barvencik, F., Schinke, T., Giesselmann, S., Beil, F. T., Pou-Serradell, A., Vilchez, J. J., and 11 others. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain 137: 683-692, 2014. | ||||||
| Kornblum, C., Nicholls, T. J., Haack, T. B., Scholer, S., Peeva, V., Danhauser, K., Hallmann, K., Zsurka, G., Rorbach, J., Iuso, A., Wieland, T., Sciacco, M., and 13 others. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nature Genet. 45: 214-219, 2013. | ||||||
| Koutsopoulos, O. S., Kretz, C., Weller, C. M., Roux, A., Mojzisova, H., Bohm, J., Koch, C., Toussaint, A., Heckel, E., Stemkens, D., ter Horst, S. A. J., Thibault, C., Koch, M., Mehdi, S. Q., Bijlsma, E. K., Mandel, J.-L., Vermot, J., Laporte, J. Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Europ. J. Hum. Genet. 21: 637-642, 2013. | ||||||
| Kovach, M. J.; Lin, J.-P.; Boyadjiev, S.; Campbell, K.; Mazzeo, L.; Herman, K.; Rimer, L. A.; Frank, W.; Llewellyn, B.; Jabs, E. W.; Gelber, D.; Kimonis, V. E. : A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am. J. Hum. Genet. 64: 1580-1593, 1999. | ||||||
| Krajinovic, M.; Pinamonti, B.; Sinagra, G.; Vatta, M.; Severini, G. M.; Milasin, J.; Falaschi, A.; Camerini, F.; Giacca, M.; Mestroni, L.; Heart Muscle Disease Study Group : Linkage of familial dilated cardiomyopathy to chromosome 9. Am. J. Hum. Genet. 57: 846-852, 1995. | ||||||
| Kranz, C., Jungeblut, C., Denecke, J., Erlekotte, A., Sohlbach, C., Debus, V., Kehl, H. G., Harms, E., Reith, A., Reichel, S., Grobe, H., Hammersen, G., Schwarzer, U., Marquardt, T. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 80: 433-440, 2007. | ||||||
| Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. :PubMed ID : 12666119 2. Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. : Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (Letter) Ann. Neurol. 57: -304, 2005. | ||||||
| Kubisch, C.; Schoser, B. G. H.; v. During, M.; Betz, R. C.; Goebel, H.-H.; Zahn, S.; Ehrbrecht, A.; Aasly, J.; Schroers, A.; Popovic, N.; Lochmuller, H.; Schroder, J. M.; Bruning, T.; Malin, J.-P.; Fricke, B.; Meinck, H.-M.; Torbergsen, T.; Engels, H.; Voss, B.; Vorgerd, M. : Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann. Neurol. 53: 512-520, 2003. | ||||||
| Kuhl A, Melberg A, Meinl E, N²ºrnberg G, N²ºrnberg P, Kehrer-Sawatzki H, Jenne DE. Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7: corroboration and narrowing of the critical region on 10q22.3. Eur J Hum Genet. 2008 Mar;16(3):367-73. Epub 2008 Jan 16. | ||||||
| Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. Nat Genet. 1993 Sep;5(1):35-9. | ||||||
| Kume, K., Kurashige, T., Muguruma, K., Morino, H., Tada, Y., Kikumoto, M., Miyamoto, T., Akutsu, S. N., Matsuda, Y., Matsuura, S., Nakamori, M., Nishiyama, A., and 18 others. CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. Am. J. Hum. Genet. 110: 1086-1097, 2023. [PubMed: 37339631, related citations] [Full Text] | ||||||
| Kurth, I., Pamminger, T., Hennings, J. C., Soehendra, D., Huebner, A. K., Rotthier, A., Baets, J., Senderek, J., Topaloglu, H., Farrell, S. A., Nurnberg, G., Nurnberg, P., De Jonghe, P., Gal, A., Kaether, C., Timmerman, V., Hubner, C. A. Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy. Nature Genet. 41: 1179-1181, 2009. | ||||||
| Kwiatkowski TJ, Jr., Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE and Brown RH, Jr. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009;323:1205-8. | ||||||
| Kwon, J. M.; Elliott, J. L.; Yee, W.-C.; Ivanovich, J.; Scavarda, N. : Charcot-Marie-Tooth type II locus to chromosome 3q. Am. J. Hum. Genet. 57: 853-858, 1995. | ||||||
| Kyndt F, Gueffet J P, Probst V, Jaafar P, Legendre A, Le Bouffant F, Toquet C, Roy E, McGregor L, Lynch S A, Newbury-Ecob R, Tran V, Young I, Trochu J N, Le Marec H, Schott J J. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40-9. | ||||||
| Kyndt, F.; Schott, J.-J.; Trochu, J.-N.; Baranger, F.; Herbert, O.; Scott, V.; Fressinaud, E.; David, A.; Moisan, J.-P.; Bouhour, J.-B.; Le Marec, H.; Benichou, B. : Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28. Am. J. Hum. Genet. 62: 627-632, 1998. | ||||||
| La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 1991 Jul 4;352(6330):77-9. | ||||||
| Lacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol. 2018 May;22(3):541-543. doi: 10.1016/j.ejpn.2017.12.005. Epub 2017 Dec 18. | ||||||
| Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, Meilleur S, Brinkman RR, Dadivas O, Pape T, Platon C, Radomski C, Risler J, Thompson J, Guerra-Escobio AM, Davar G, Breakefield XO, Pimstone SN, Green R, Pryse-Phillips W, Goldberg YP, Younghusband HB, Hayden MR, Sherrington R, Rouleau GA and Samuels ME. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-73. | ||||||
| Lagier-Tourenne C, Tazir M, L²≥pez LC, Quinzii CM, Assoum M, Drouot N, Busso C, Makri S, Ali-Pacha L, Benhassine T, Anheim M, Lynch DR, Thibault C, Plewniak F, Bianchetti L, Tranchant C, Poch O, DiMauro S, Mandel JL, Barros MH, Hirano M, Koenig M. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet. 2008 Mar;82(3):661-72. | ||||||
| Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Betard C, Warter JM, Koenig M. Eur J Hum Genet. 2003 Oct;11(10):770-8. | ||||||
| Lahat, H.; Pras, E.; Olender, T.; Avidan, N.; Ben-Asher, E.; Man, O.; Levy-Nissenbaum, E.; Khoury, A.; Lorber, A.; Goldman, B.; Lancet, D.; Eldar, M. : A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am. J. Hum. Genet. 69: 1378-1384, 2001. | ||||||
| Laing NG, Laing BA, Meredith C, et al. Autosomal dominant distal myopathy: linkage to chromosome 14. Am J Hum Genet 1995;56:422-427. | ||||||
| Laing NG, Majda BT, Akkari PA, Layton MG, Mulley JC, Phillips H, Haan EA, White SJ, Beggs AH, Kunkel LM, et al. Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I. Am J Hum Genet. 1992 Mar;50(3):576-83. | ||||||
| Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet. 1995 Jun;10(2):249. | ||||||
| Laing, N. G.; Ceuterick-de Groote, C.; Dye, D. E.; Liyanage, K.; Duff, R. M.; Dubois, B.; Robberecht, W.; Sciot, R.; Martin, J.-J.; Goebel, H. H. : Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases. Neurology 64: 527-529, 2005. | ||||||
| Laing, N. G.; Clarke, N. F.; Dye, D. E.; Liyanage, K.; Walker, K. R.; Kobayashi, Y.; Shimakawa, S.; Hagiwara, T.; Ouvrier, R.; Sparrow, J. C.; Nishino, I.; North, K. N.; Nonaka, I. : Actin mutations are one cause of congenital fibre type disproportion. Ann. Neurol. 56: 689-694, 2004. | ||||||
| Laitinen-Forsblom, P. J., Makynen, P., Makynen, H., Yli-Mayry, S., Virtanen, V., Kontula, K., Aalto-Setala, K. SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias. J. Cardiovasc. Electrophysiol. 17: 480-485, 2006. | ||||||
| Laitinen, P. J.; Brown, K. M.; Piippo, K.; Swan, H.; Devaney, J. M.; Brahmbhatt, B.; Donarum, E. A.; Marino, M.; Tiso, N.; Viitasalo, M.; Toivonen, L.; Stephan, D. A.; Kontula, K. : Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103: 485-490, 2001. | ||||||
| Lakhani, S., Doan, R., Almureikhi, M., Partlow, J. N., Al Saffar, M., Elsaid, M. F., Alaaraj, N., Barkovich, A. J., Walsh, C. A., Ben-Omran, T. Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Europ. J. Med. Genet. 60: 245-249, 2017. | ||||||
| Landoure, G., Zdebik, A. A., Martinez, T. L., Burnett, B. G., Stanescu, H. C., Inada, H., Shi, Y., Taye, A. A., Kong, L., Munns, C. H., Choo, S. S., Phelps, C. B., and 8 others Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nature Genet. 42: 170-174, 2010. | ||||||
| Landoure, G., Zhu, P.-P., Lourenco, C. M., Johnson, J. O., Toro, C., Bricceno, K. V., Rinaldi, C., Melleur, K. G., Sangare, M., Diallo, O., Pierson, T. M., Ishiura, H., and 19 others. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum. Mutat. 34: 1357-1360, 2013. | ||||||
| Landstrom AP, Adekola BA, Bos JM, Ommen SR, Ackerman MJ. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am Heart J. 2011 Jan;161(1):165-71. | ||||||
| Landstrom AP, Parvatiyar MS, Pinto JR, Marquardt ML, Bos JM, Tester DJ, Ommen SR, Potter JD, Ackerman MJ. Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. J Mol Cell Cardiol. 2008 Aug;45(2):281-8. Epub 2008 May 11. | ||||||
| Landstrom AP, Weisleder N, Batalden KB, Bos JM, Tester DJ, Ommen SR, Wehrens XH, Claycomb WC, Ko JK, Hwang M, Pan Z, Ma J, Ackerman MJ. Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans. J Mol Cell Cardiol. 2007 Jun;42(6):1026-35. Epub 2007 Apr 18. | ||||||
| Lange S, Xiang F, Yakovenko A, Vihola A, Hackman P, Rostkova E, Kristensen J, Brandmeier B, Franzen G, Hedberg B, Gunnarsson LG, Hughes SM, Marchand S, Sejersen T, Richard I, Edstrom L, Ehler E, Udd B, Gautel M. The kinase domain of titin controls muscle gene expression and protein turnover. Science. 2005 Jun 10;308(5728):1599-603. Epub 2005 Mar 31. | ||||||
| Laporte J, Guiraud-Chaumeil C, Vincent MC, Mandel JL, Tanner SM, Liechti-Gallati S, Wallgren-Pettersson C, Dahl N, Kress W, Bolhuis PA, Fardeau M, Samson F, Bertini E. Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center. Hum Mol Genet. 1997 Sep;6(9):1505-11. | ||||||
| Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet. 1996 Jun;13(2):175-82. | ||||||
| Laporte, J.; Biancalana, V.; Tanner, S. M.; Kress, W.; Schneider, V.; Wallgren-Pettersson, C.; Herger, F.; Buj-Bello, A.; Blondeau, F.; Liechti-Gallati, S.; Mandel, J.-L. : MTM1 mutations in X-linked myotubular myopathy. Hum. Mutat. 15: 393-409, 2000. | ||||||
| Laquerriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Heron, D., Desguerres, I., and 48 others. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum. Molec. Genet. 23: 2279-2289, 2014. | ||||||
| Laquerriere, A., Maluenda, J., Camus, A., Fontenas, L., Dieterich, K., Nolent, F., Zhou, J., Monnier, N., Latour, P., Gentil, D., Heron, D., Desguerres, I., and 48 others. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum. Molec. Genet. 23: 2279-2289, 2014. | ||||||
| Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA. TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of ?-dystroglycan and muscular dystrophy. Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0. | ||||||
| Lassuthova, P., Rebelo, A. P., Ravenscroft, G., Lamont, P. J., Davis, M. R., Manganelli, F., Feely, S. M., Bacon, C., Brozkova, D. S., Haberlova, J., Mazanec, R., Tao, F., and 22 others. Mutations in ATP1A1 cause dominant Charcot-Marie-Tooth type 2. Am. J. Hum. Genet. 102: 505-514, 2018. | ||||||
| Latour, P., Thauvin-Robinet, C., Baudelet-Mery, C., Soichot, P., Cusin, V., Faivre, L., Locatelli, M.-C., Mayencon, M., Sarcey, A., Broussolle, E., Camu, W., David, A., Rousson, R. A major determinant for binding and aminoacylation of tRNA-Ala in cytoplasmic alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth Disease. Am. J. Hum. Genet. 86: 77-82, 2010. | ||||||
| Leal A, Bogantes-Ledezma S, Ekici AB, Uebe S, Thiel CT, Sticht H, Berghoff M, Berghoff C, Morera B, Meisterernst M, Reis A. The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Jul 24. doi: 10.1007/s10048-018-0555-7. | ||||||
| Leal A, Morera B, Del Valle G, Heuss D, Kayser C, Berghoff M, Villegas R, Hernandez E, Mendez M, Hennies HC, Neundorfer B, Barrantes R, Reis A, Rautenstrauss B. A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3. Am J Hum Genet. 2001 Jan;68(1):269-74. Epub 2000 Dec 07. | ||||||
| Leal, A., Huehne, K., Bauer, F., Sticht, H., Berger, P., Suter, U., Morera, B., Del Valle, G., Lupski, J. R., Ekici, A., Pasutto, F., Endele, S., and 15 others Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10: 275-287, 2009. | ||||||
| Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome to chromosome 11. Science. 1984 Jul 6;225(4657):57-9. | ||||||
| Lee CY, Petkova M, Morales-Gonzalez S, Gimber N, Schmoranzer J, Meisel A, Böhmerle W, Stenzel W, Schuelke M, Schwarz JM. A spontaneous missense mutation in the chromodomain helicase DNA-binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome. Neuropathol Appl Neurobiol. 2020 Oct;46(6):588-601. doi: 10.1111/nan.12617. Epub 2020 May 7. PMID: 32267004. | ||||||
| Lee Y, Jonson PH, Sarparanta J, et al. TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations. J Clin Invest. 2018;128(3):1164-1177. doi:10.1172/JCI97103 | ||||||
| Lee, S.-S, Lee, HJ., Park, J-M., et al. Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene. JAMA Neurol. 2013; 70: 607– 615,. | ||||||
| Lee, Y.-C., Durr, A., Majczenko, K., Huang, Y.-H., Liu, Y.-C., Lien, C.-C., Tsai, P.-C., Ichikawa, Y., Goto, J., Monin, M.-L., Li, J. Z., Chung, M.-Y., and 10 others. Mutations in KCND3 cause spinocerebellar ataxia type 22. Ann. Neurol. 72: 859-869, 2012. | ||||||
| Lefeber, D. J., de Brouwer, A. P. M., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J. H. M., Absmanner, B., Verrijp, K., van den Akker, W. M. R., Huijben, K., Steenbergen, G., van Reeuwijk, J., Jozwiak, A., and 10 others. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 7: e1002427, 2011. Note: Electronic Article. | ||||||
| Lefeber, D. J., Schonberger, J., Morava, E., Guillard, M., Huyben, K. M., Verrijp, J., Grafakou, O., Evangeliou, A., Preijers, F. W., Manta, P., Yildiz, J., Grunewald, S., and 11 others. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am. J. Hum. Genet. 85: 76-86, 2009. | ||||||
| Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. | ||||||
| Lefevre, C.; Jobard, F.; Caux, F.; Bouadjar, B.; Karaduman, A.; Heilig, R.; Lakhdar, H.; Wollenberg, A.; Verret, J.-L.; Weissenbach, J.; Ozguc, M.; Lathrop, M.; Prud'homme, J.-F.; Fischer, J. : Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am. J. Hum. Genet. 69: 1002-1012, 2001. | ||||||
| LeGuern E, Guilbot A, Kessali M, Ravise N, Tassin J, Maisonobe T, Grid D, Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 1996 Oct;5(10):1685-8. | ||||||
| Lehtokari V L, Ceuterick-de Groote C, de Jonghe P, Marttila M, Laing N G, Pelin K, Wallgren-Pettersson C. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 2007; 17: 433-42. | ||||||
| Lehtokari, V.-L.; Pelin, K.; Sandbacka, M.; Ranta, S.; Donner, K.; Muntoni, F.; Sewry, C.; Angelini, C.; Bushby, K.; Van den Bergh, P.; Iannaccone, S.; Laing, N. G.; Wallgren-Pettersson, C. : Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum. Mutat. 27: 946-956, 2006. | ||||||
| Leipold, E., Liebmann, L., Korenke, G. C., Heinrich, T., Giesselmann, S., Baets, J., Ebbinghaus, M., Goral, R. O., Stodberg, T., Hennings, J. C., Bergmann, M., Altmuller, J., and 11 others. A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nature Genet. 45: 1399-1404, 2013. | ||||||
| Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nature Genet. 44: 1370–1374, 2012. | ||||||
| Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Cama²±o P, Dauwerse JG, Snider L, Straasheijm KR, van Ommen GJ, Padberg GW, Miller DG, Tapscott SJ, Tawil R, Frants RR, van der Maarel SM. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science. 2010 Sep 24;329(5999):1650-3. Epub 2010 Aug 19. | ||||||
| Leoni TB, González-Salazar C, Rezende TJR, Hernández ALC, Mattos AHB, Coimbra Neto AR, da Graça FF, Gonçalves JPN, Martinez ARM, Taniguti L, Kitajima JP, Kok F, Rogério F, da Silva AMS, de Oliveira ALR, Zanoteli E, Nucci A, França MC Jr. A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant. Ann Neurol. 2021 Aug;90(2):239-252. doi: 10.1002/ana.26136. Epub 2021 Jun 14. PMID: 34048612 | ||||||
| Lerche H, Heine R, Pika U, George AL Jr, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M, et al. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 1993 Oct;470:13-22. | ||||||
| Leung CL, He CZ, Kaufmann P, Chin SS, Naini A, Liem RK, Mitsumoto H, Hays AP. A pathogenic peripherin gene mutation in a patient with amyotrophic lateral sclerosis. Brain Pathol. 2004 Jul;14(3):290-6. | ||||||
| Levitas, A., Muhammad, E., Harel, G., Saada, A., Caspi, V. C., Manor, E., Beck, J. C., Sheffield, V., Parvari, R. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Europ. J. Hum. Genet. 18: 1160-1165, 2010. | ||||||
| Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA. Evidence for the localization of a malignant hyperthermia susceptibility locus (MHS2) to human chromosome 17q. Genomics. 1992 Nov;14(3):562-6. | ||||||
| Li D, Ahmad F. Gardner MJ, Weilbaecher D, Hill R, Karibe A, Gonzalez O, Tapscott T, Sharratt GP. Bachinski LL, Roberts R. The locus of a novel gene responsible for arrhythmogenic right- ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. Am J Hum Genet 2000;66:148-156. | ||||||
| Li D, Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Partain J, Nixon RR, Allen CN, Irwin RP, Jakobs PM, Litt M, Hershberger RE. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet. 2006 Dec;79(6):1030-9. Epub 2006 Oct 24. | ||||||
| Li N, Wang L, Sun X, Lu Z, Suo X, Li J, Peng J, Peng R. A novel mutation in VRK1 associated with distal spinal muscular atrophy. J Hum Genet. 2019 Jan 7. doi: 10.1038/s10038-018-0553-5. | ||||||
| Li, D.; Tapscoft, T.; Gonzalez, O.; Burch, P. E.; Quinones, M. A.; Zoghbi, W. A.; Hill, R.; Bachinski, L. L.; Mann, D. L.; Roberts, R. : Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100: 461-464, 1999. | ||||||
| Li, R.-G., Wang, Q., Xu, Y.-J., Zhang, M., Qu, X.-K., Liu, X., Fang, W.-Y., Yang, Y.-Q. Mutations of the SCN4B-encoded sodium channel beta-4 subunit in familial atrial fibrillation. Int. J. Molec. Med. 32: 144-150, 2013. | ||||||
| Li, X., Hu, Z., Liu, L., Xie, Y., Zhan, Y., Zi, X., Wang, J., Wu, L., Xia, K., Tang, B., Zhang, R. A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. Neurology 84: 2430-2437, 2015. | ||||||
| Li,M, Pang, S.Y.Y. Song, Y., Kung, M. H. W., Ho, S.-L., Sham, P.-C. Whole exome sequencing identifies a novel mutation in the transglutaminase 6 gene for spinocerebellar ataxia in a Chinese family. Clin. Genet. 83: 269-273, 2013. | ||||||
| Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9. | ||||||
| Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skelet Muscle. 2015 Aug 28;5:29. doi: 10.1186/s13395-015-0056-4. eCollection 2015. | ||||||
| Liao YC, Chang FP, Huang HW, Chen TB, Chou YT, Hsu SL, Jih KY, Liu YH, Hsiao CT, Fukukda H, Mizuguchi T, Lin KP, Lin CK, Matsumoto N, Kennerson M, Lee YC. GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology. 2022 Jan 11;98(2):e199-e206. doi: 10.1212/WNL.0000000000013008. Epub 2021 Oct 21. PMID: 34675106 | ||||||
| Liao, Y., Anttonen, A.-K., Liukkonen, E., Gaily, E., Maljevic, S., Schubert, S., Bellan-Koch, A., Petrou, S., Ahonen, V. E., Lerche, H., Lehesjoki, A.-E. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75: 1454-1458, 2010.[PubMed: 20956790] | ||||||
| Liewluck T, Milone M, Mauermann ML, Castro-Couch M, Cerhan JH, Murthy NS. A novel VCP mutation underlies scapuloperoneal muscular dystrophy and dropped head syndrome featuring lobulated fibers. Muscle Nerve. 2014 Aug;50(2):295-9. doi: 10.1002/mus.24290. Epub 2014 Jul 14. | ||||||
| Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Moomaw C, Slaughter C, et al. Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet. 1995 Nov;11(3):257-65. | ||||||
| Lin P, Li J, Liu Q, Mao F, Li J, Qiu R, Hu H, Song Y, Yang Y, Gao G, Yan C, Yang W, Shao C, Gong Y. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9. | ||||||
| Linssen, W. H. J. P., de Visser, M., Notermans, N. C., Vreyling, J. P., Van Doorn, P. A., Wokke, J. H. J., Baas, F., Bolhuis, P. A. Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. Neuromusc. Disord. 8: 317-320, 1998.[PubMed: 9673985] | ||||||
| Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001 Aug 3;293(5531):864-7. | ||||||
| Lise, S., Clarkson, Y., Perkins, E., Kwasniewska, A., Sadighi Akha, E., Schnekenberg, R. P., Suminaite, D., Hope, J., Baker, I., Gregory, L., Green, A., Allan, C., and 20 others. Recessive mutations in SPTBN2 implicate beta-III spectrin in both cognitive and motor development. PLoS Genet. 8: e1003074, 2012. Note: Electronic Article | ||||||
| Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998 Sep;20(1):31-6. | ||||||
| Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H. Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy. Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9. | ||||||
| Liu, X., Wang, N., Chen, Y., Lv, W., Hong, J.-M., Xu, G.-R., Zhou, L.-Y., Chen, W.-J., Fan, D.-S., He, J. Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families. Brain 146: e27-e30, 2023. [PubMed: 36758993, related citations] [Full Text] | ||||||
| Ljunggren A, Duggan D, McNally E, Boylan KB, Gama CH, Kunkel LM, Hoffman EP. Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol. 1995 Sep;38(3):367-72. | ||||||
| Logan CV, Szabadkai G, Sharpe JA, Parry DA, Torelli S, Childs AM, Kriek M, Phadke R, Johnson CA, Roberts NY, Bonthron DT, Pysden KA, Whyte T, Munteanu I, Foley AR, Wheway G, Szymanska K, Natarajan S, Abdelhamed ZA, Morgan JE, Roper H, Santen GW, Niks EH, van der Pol WL, Lindhout D, Raffaello A, De Stefani D, den Dunnen JT, Sun Y, Ginjaar I, Sewry CA, Hurles M, Rizzuto R; UK10K Consortium, Duchen MR, Muntoni F, Sheridan E. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet. 2014 Feb;46(2):188-93. doi: 10.1038/ng.2851. Epub 2013 Dec 15. PMID: 24336167 | ||||||
| Logan, C. V., Cossins, J., Rodriguez Cruz, P. M., Parry, D. A., Maxwell, S., Martinez-Martinez, P., Riepsaame, J., Abdelhamed, Z. A., Lake, A. V. R., Moran, M., Robb, S., Chow, G., Sewry, C., Hopkins, P. M., Sheridan, E., Jayawant, S., Palace, J., Johnson, C. A., Beeson, D. Congenital myasthenic syndrome type 19 is caused by mutations in COL13A1, encoding the atypical non-fibrillar collagen type XIII alpha-1 chain. Am. J. Hum. Genet. 97: 878-885, 2015. | ||||||
| Logan, C. V., Lucke, B., Pottinger, C., Abdelhamed, Z. A., Parry, D. A., Szymanska, K., Diggle, C. P., van Riesen, A., Morgan, J. E., Markham, G., Ellis, I., Manzur, A. Y., and 12 others. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genet. 43: 1189-1192, 2011. | ||||||
| London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation. 2007 Nov 13;116(20):2260-8. Epub 2007 Oct 29. | ||||||
| Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet 2006;78:1026-1034 | ||||||
| Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9 | ||||||
| Lopez-Bigas N, Olivé M, Rabionet R, Ben-David O, Martínez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbonés ML, Estivill X. Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. Hum Mol Genet. 2001 Apr 15;10(9):947-52. | ||||||
| Lopez-Hernandez JC, Galnares-Olalde JA, Benitez-Alonso E, Alcalá RE, Vargas-Cañas ES. Vacuolar Myopathy Associated to CACNA1S Mutation as a Rare Cause of Late-Onset Limb-Girdle Myopathy: A Case Report. Cureus. 2021 Oct 18;13(10):e18873. doi: 10.7759/cureus.18873. PMID: 34804722; PMCID: PMC8599111. | ||||||
| Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Jan 30. doi: 10.1007/s00401-019-01963-8. | ||||||
| Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J. ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Jan 30. doi: 10.1007/s00401-019-01963-8. | ||||||
| Lornage X., Malfatti E., Chéraud C., Schneider R., | ||||||
| Loseth S, Voermans NC, Torbergsen T, et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol 2013;260:1504–10. | ||||||
| Lossos, A., Elazar, N., Lerer, I., Schueler-Furman, O., Fellig, Y., Glick, B., Zimmerman, B.-E., Azulay, H., Dotan, S., Goldberg, S., Gomori, J. M., Ponger, P., and 10 others. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. Brain 138: 2521-2536, 2015. | ||||||
| Lossos, A., Stumpfig, C., Stevanin, G., Gaussen, M., Zimmerman, B.-E., Mundwiller, E., Asulin, M., Chamma, L., Sheffer, R., Misk, A., Dotan, S., Gomori, J. M., Ponger, P., Brice, A., Lerer, I., Meiner, V., Lill, R. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology 84: 659-667, 2015. | ||||||
| Louw, J. J., Nunes Bastos, R., Chen, X., Verdood, C., Corveleyn, A., Jia, Y., Breckpot, J., Gewillig, M., Peeters, H., Santoro, M. M., Barr, F., Devriendt, K. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings. PLoS Genet. 14: e1007138, 2018 | ||||||
| Luedde, M., Ehlermann, P., Weichenhan, D., Will, R., Zeller, R., Rupp, S., Muller, A, Steen, H., Ivandic, B. T., Ulmer, H. E., Kern, M., Katus, H. A., Frey, N. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation. Cardiovasc. Res. 86: 452-460, 2010. | ||||||
| Luxan, G., Casanova, J. C., Martinez-Poveda, B., Prados, B., D'Amato, G., MacGrogan, D., Gonzalez-Rajal, A., Dobarro, D., Torroja, C., Martinez, F., Izquierdo-Garcia, J. L., Fernandez-Friera, L., and 10 others. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nature Med. 19: 193-201, 2013. | ||||||
| M²§kel²§-Bengs P, J²§rvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipil²§ M, Herva R, Palotie A, Peltonen L. Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. Am J Hum Genet. 1998 Aug;63(2):506-16. | ||||||
| Macedo-Souza, L. I., Kok, F., Santos, S., Licinio, L., Lezirovitz, K., Nascimento, R. M. P., Bueno, C., Martyn, M., Leao, E. K. E. A., Zatz, M. Reevaluation of a large family defines a new locus for X-linked recessive pure spastic paraplegia (SPG34) on chromosome Xq25. Neurogenetics 9: 225-226, 2008. | ||||||
| MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt BA, Worton RG. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature. 1990 Feb 8;343(6258):559-61. | ||||||
| Maeda, K., Kaji, R., Yasuno, K., Jambaldorj, J., Nodera, H., Takashima, H., Nakagawa, M., Makino, S., Tamiya, G. Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity. J. Hum. Genet. 52: 907-914, 2007. | ||||||
| Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K and Mandel H. Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet 2008;83:30-42. | ||||||
| Magini, P., Smits, D. J., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., van der Ent, M., Palombo, F., Lequin, M. H., Dremmen, M., de Wit, M. C. Y., Severino, M., and 40 others. Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis. Am. J. Hum. Genet. 105: 689-705, 2019. | ||||||
| Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253-5. | ||||||
| Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. | ||||||
| Malfatti E, Catchpool T, Nouioua S, Sihem H, Fournier E, Carlier RY, Cardone N, Davis MR, Laing NG, Sternberg D, Ravenscroft G. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease. Neuropathol Appl Neurobiol. 2021 Jun 23. doi: 10.1111/nan.12743. Epub ahead of print. PMID: 34164833 | ||||||
| Malfatti E, Nilsson J, Hedberg-Oldfors C, Hernandez-Lain A, Michel F, Dominguez-Gonzalez C, Viennet G, Akman HO, Kornblum C, Van den Bergh P, Romero NB, Engel AG, DiMauro S, Oldfors A. A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol. 2014 Oct 1. doi: 10.1002/ana.24284. | ||||||
| Malfatti, E., Bohm, J., Lacene, E., Beuvin, M., Brochier, G., Romero, N. B., Laporte, J. A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy. J. Neuromusc. Dis. 2: 219-227, 2015. | ||||||
| Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Hum Mutat. 2018 Jan;39(1):69-79. doi: 10.1002/humu.23345. Epub 2017 Nov 8. PMID: 29044765; PMCID: PMC5722658. | ||||||
| Mallaret, M., Synofzik, M., Lee, J., Sagum, C. A., Mahajnah, M., Sharkia, R., Drouot, N., Renaud, M., Klein, F. A. C., Anheim, M., Tranchant, C., Mignot, C., Mandel, J.-L., Bedford, M., Bauer, P., Salih, M. A., Schule, R., Schols, L., Aldaz, C. M., Koenig, M. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137: 411-419, 2014. | ||||||
| Maluenda, J., Manso, C., Quevarec, L., Vivanti, A., Marguet, F., Gonzales, M., Guimiot, F., Petit, F., Toutain, A., Whalen, S., Grigorescu, R., Coeslier, A. D., Gut, M., Gut, I., Laquerriere, A., Devaux, J., Melki, J. Mutations in GLDN, encoding gliomedin, a critical component of the nodes of Ranvier, are responsible for lethal arthrogryposis. Am. J. Hum. Genet. 99: 928-933, 2016. | ||||||
| Mancuso, M.; Filosto, M.; Bellan, M.; Liguori, R.; Montagna, P.; Baruzzi, A.; DiMauro, S.; Carelli, V. : POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62: 316-318, 2004. | ||||||
| Mandel, H., Szargel, R., Labay, V., Elpeleg, O., Saada, A., Shalata, A., Anbinder, Y., Berkowitz, D., Hartman, C., Barak, M., Eriksson, S., Cohen, N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nature Genet. 29: 337-341, 2001. Note: Erratum: Nature Genet. 29: 491 only, 2001. | ||||||
| Mannan, A. U.; Krawen, P.; Sauter, S. M.; Boehm, J.; Chronowska, A.; Paulus, W.; Neesen, J.; Engel, W. : ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am. J. Hum. Genet. 79: 351-357, 2006. | ||||||
| Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group, Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. PMID: 32738225; PMCID: PMC7413890. | ||||||
| Manzini, M. C., Tambunan, D. E., Hill, R. S., Yu, T. W., Maynard, T. M., Heinzen, E. L., Shianna, K. V., Stevens, C. R., Partlow, J. N., Barry, B. J., Rodriguez, J., Gupta, V. A., and 10 others. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am. J. Hum. Genet. 91: 541-547, 2012. | ||||||
| Margolin, D. H., Kousi, M., Chan, Y.-M., Lim, E. T., Schmahmann, J. D., Hadjivassiliou, M., Hall, J. E., Adam, I., Dwyer, A., Plummer, L., Aldrin, S. V., O'Rourke, J., and 9 others. Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. New Eng. J. Med. 368: 1992-2003, 2013. | ||||||
| Mariman EC, Gabreels-Festen AA, van Beersum SE, Jongen PJ, van de Looij E, Baas F, Bolhuis PA, Ropers HH, Gabreels FJ. Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies. Hum Genet. 1994 Feb;93(2):151-6. | ||||||
| Markus, B., Narkis, G., Landau, D., Birk, R. Z., Cohen, I., Birk, O. S. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum. Mutat. 33: 1435-1438, 2012. | ||||||
| Martin, E., Schule, R., Smets, K., Rastetter, A., Boukhris, A., Loureiro, J. L., Gonzalez, M. A., Mundwiller, E., Deconinck, T., Wessner, M., Jornea, L., Oteyza, A. C., and 10 others. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am. J. Hum. Genet. 92: 238-244, 2013. | ||||||
| Martinez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP. Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15. Neurology. 1999 Jul 13;53(1):50-6. | ||||||
| Martinez-Thompson, J. M., Niu, Z., Tracy, J. A., Moore, S. A., Swenson, A., Wieben, E. D., Milone, M. Autosomal dominant calpainopathy due to heterozygous CAPN3 c.643_663del21. Muscle Nerve. 57: 679-683, 2018. | ||||||
| Martiniuk F, Bodkin M, Tzall S, Hirschhorn R. Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells. Am J Hum Genet 1990; 47: 440-445. | ||||||
| Martinsson, T.; Darin, N.; Kyllerman, M.; Oldfors, A.; Hallberg, B.; Wahlstrom, J. : Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am. J. Hum. Genet. 64: 1420-1426, 1999. | ||||||
| Martinsson, T.; Oldfors, A.; Darin, N.; Berg, K.; Tajsharghi, H.; Kyllerman, M.; Wahlstrom, J. : Autosomal dominant myopathy: missense mutation (glu-706-to-lys) in the myosin heavy chain IIa gene. Proc. Nat. Acad. Sci. 97: 14614-14619, 2000. | ||||||
| Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., Komure, O., Matsuura, S., and 15 others. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465: 223-226, 2010. | ||||||
| Maselli R.A., Arredondo J., Vázquez J., Chong J.X., Bamshad M.J., Nickerson D.A., et al. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. Am J Med Genet A. 2017 Aug;173(8):2240-2245. | ||||||
| Maselli RA, van der Linden H Jr, Ferns M. Recessive congenital myasthenic syndrome caused by a homozygous mutation in SYT2 altering a highly conserved C-terminal amino acid sequence. Am J Med Genet A. 2020 Jul;182(7):1744-1749. doi: 10.1002/ajmg.a.61579. Epub 2020 Apr 6. PMID: 32250532 | ||||||
| Maselli RA, Vázquez J, Schrumpf L, Arredondo J, Lara M, Strober JB, Pytel P, Wollmann RL, Ferns M. Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis linked to compound heterozygous sequence variants in RPH3A. Mol Genet Genomic Med. 2018 May;6(3):434-440. doi: 10.1002/mgg3.370. Epub 2018 Feb 14. | ||||||
| Maselli, R. A., Ng, J. J., Anderson, J. A., Cagney, O., Arredondo, J., Williams, C., Wessel, H. B., Abdel-Hamid, H., Wollmann, R. L. Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J. Med. Genet. 46: 203-208, 2009. | ||||||
| Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG. Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. | ||||||
| Mastaglia, F. L.; Phillips, B. A.; Cala, L. A.; Meredith, C.; Egli, S.; Akkari, P. A.; Laing, N. G. : Early onset chromosome 14-linked distal myopathy (Laing). Neuromusc. Disord. 12: 350-357, 2002. | ||||||
| Mathur, A.; Sims, H. F.; Gopalakrishnan, D.; Gibson, B.; Rinaldo, P.; Vockley, J.; Hug, G.; Strauss, A. W. : Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation 99: 1337-1343, 1999. | ||||||
| Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Hanemann CO, Muller HW, Bird TD, White R, et al. Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nat Genet. 1992 Jun;1(3):176-9. | ||||||
| Matsushita Y, Furukawa T, Kasanuki H, Nishibatake M, Kurihara Y, Ikeda A, Kamatani N, Takeshima H, Matsuoka R. Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy. J Hum Genet. 2007;52(6):543-8. Epub 2007 May 3. | ||||||
| Matthijs, G.; Schollen, E.; Legius, E.; Devriendt, K.; Goemans, N.; Kayserili, H.; Apak, M. Y.; Cassiman, J.-J. : Unusual molecular findings in autosomal recessive spinal muscular atrophy. J. Med. Genet. 33: 409-474, 1996. | ||||||
| Mayosi, B. M., Fish, M., Shaboodien, G., Mastantuono, E., Kraus, S., Wieland, T., Kotta, M.-C., Chin, A., Laing, N., Ntusi, N. B. A., Chong, M., Horsfall, C., Pimstone, S. N., Gentilini, D., Parati, G., Strom, T.-M., Meitinger, T., Pare, G., Schwartz, P. J., Crotti, L. Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. Circ. Cardiovasc. Genet. 10: e001605, 2017 | ||||||
| Maystadt I, Rezs²∂hazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C. The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. Epub 2007 May 16. | ||||||
| Maystadt I, Zarhrate M, Leclair-Richard D, Estournet B, Barois A, Renault F, Routon MC, Durand MC, Lefebvre S, Munnich A, Verellen-Dumoulin C, Viollet L. A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. Neurology. 2006 Jul 11;67(1):120-4. Epub 2006 May 25. | ||||||
| McCarthy TV, Healy JM, Heffron JJ, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature. 1990 Feb 8;343(6258):562-4. | ||||||
| McClatchey AI, Van den Bergh P, Pericak-Vance MA, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines JL, Bird T, Brown RH Jr, et al. Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 1992 Feb 21;68(4):769-74. | ||||||
| McEntagart M, Norton N, Williams H, Teare MD, Dunstan M, Baker P, Houlden H, Reilly M, Wood N, Harper PS, Futreal PA, Williams N, Rahman N. Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14. Am J Hum Genet. 2001 May;68(5):1270-6. Epub 2001 Apr 04. | ||||||
| McEntagart, M. E.; Reid, S. L.; Irrthum, A.; Douglas, J. B.; Eyre, K. E. D.; Donaghy, M. J.; Anderson, N. E.; Rahman, N. : Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24. Ann. Neurol. 57: 293-297, 2005. Note: Erratum: Ann. Neurol. 57: 609 only, 2005. | ||||||
| McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G, Park SM, van der Smagt JJ, Bugiani M, Maher ER. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2014 Dec 5;2:148. doi: 10.1186/s40478-014-0148-0. PubMed PMID: 25476234; PubMed Central PMCID: PMC4271450. | ||||||
| McKoy, G.; Protonotarios, N.; Crosby, A.; Tsatsopoulou, A.; Anastasakis, A.; Coonar, A.; Norman, M.; Baboonian, C.; Jeffery, S.; McKenna, W. J. : Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355: 2119-2124, 2000. | ||||||
| McLaughlin, H. M., Sakaguchi, R., Liu, C., Igarashi, T., Pehlivan, D., Chu, K., Iyer, R., Cruz, P., Cherukuri, P. F., Hansen, N. F., Mullikin, J.C., NISC Comparative Sequencing Program, and 13 others. Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am. J. Hum. Genet. 87: 560-566, 2010. | ||||||
| McMillin, M. J., Beck, A. E., Chong, J. X., Shively, K. M., Buckingham, K. J., Gildersleeve, H. I. S., Aracena, M. I., Aylsworth, A. S., Bitoun, P., Carey, J. C., Clericuzio, C. L., Crow, Y. J., and 34 others. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am. J. Hum. Genet. 94: 734-744, 2014. | ||||||
| McMillin, M. J., Below, J. E., Shively, K. M., Beck, A. E., Gildersleeve, H. I., Pinner, J., Gogola, G. R., Hecht, J. T., Grange, D. K., Harris, D. J., Earl, D. L., Jagadeesh, S., and 9 others. : Mutations in ECEL1 cause distal arthrogryposis type 5D. Am. J. Hum. Genet. 92: 150-156, 2013. | ||||||
| McNair, W. P., L. Ku, et al. (2004). "SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia." Circulation 110(15): 2163-7. | ||||||
| McNally EM, de Sa Moreira E, Duggan DJ, Bonnemann CG, Lisanti MP, Lidov HG, Vainzof M, Passos-Bueno MR, Hoffman EP, Zatz M, Kunkel LM. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May;7(5):871-7. | ||||||
| McNally EM, Passos-Bueno MR, Bonnemann CG, Vainzof M, de Sa Moreira E, Lidov HG, Othmane KB, Denton PH, Vance JM, Zatz M, Kunkel LM. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov;59(5):1040-7. | ||||||
| Medeiros-Domingo, A., Kaku, T., Tester, D. J., Iturralde-Torres, P., Itty, A., Ye, B., Valdivia, C., Ueda, K., Canizales-Quinteros, S., Tusie-Luna, M. T., Makielski, J. C., Ackerman, M. J. SCN4B-encoded sodium channel beta-4 subunit in congenital long-QT syndrome. Circulation 116: 134-142, 2007. | ||||||
| Meijer, I. A.; Cossette, P.; Roussel, J.; Benard, M.; Toupin, S.; Rouleau, G. A. : A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann. Neurol. 56: 579-582, 2004. | ||||||
| Meijer, I. A.; Hand, C. K.; Grewal, K. K.; Stefanelli, M. G.; Ives, E. J.; Rouleau, G. A. : A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13. Am. J. Hum. Genet. 70: 763-769, 2002. | ||||||
| Meilleur KG, Traoré M, Sangaré M, Britton A, Landouré G, Coulibaly S, Niaré B, Mochel F, La Pean A, Rafferty I, Watts C, Shriner D, Littleton-Kearney MT, Blackstone C, Singleton A, Fischbeck KH. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. Neurogenetics. 2010 Jul;11(3):313-8. Epub 2009 Dec 29. | ||||||
| Melberg A, Oldfors A, Blomstrom-Lundqvist C, Stalberg E, Carlsson B, Larsson E, Lidell C, Eeg-Olofsson KE, Wikstrom G, Henriksson KG, Dahl N. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999 Nov;46(5):684-92. | ||||||
| Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain 2013;136:1508–17. [ | ||||||
| Melki J, Abdelhak S, Sheth P, Bachelot MF, Burlet P, Marcadet A, Aicardi J, Barois A, Carriere JP, Fardeau M, et al. Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature. 1990 Apr 19;344(6268):767-8. | ||||||
| Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Benichou B, Zeviani M, Le Paslier D, et al. De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science. 1994 Jun 3;264(5164):1474-7. | ||||||
| Melo, U. S., Macedo-Souza, L. I., Figueiredo, T., Muotri, A. R., Gleeson, J. G., Coux, G., Armas, P., Calcaterra, N. B., Kitajima, J. P., Amorim, S., Olavio, T. R., Griesi-Oliveira, K., Coatti, G. C., Rocha, C. R. R., Martins-Pinheiro, M., Menck, C. F. M., Zaki, M. S., Kok, F., Zatz, M., Santos, S. Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum. Molec. Genet. 24: 6877-6885, 2015. | ||||||
| Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15. | ||||||
| Mendoza-Ferreira, N., Coutelier, M., Janzen, E., Hosseinibarkooie, S., Lohr, H., Schneider, S., Milbradt, J., Karakaya, M., Riessland, M., Pichlo, C., Torres-Benito, L., Singleton, A., Zuchner, S., Brice, A., Durr, A., Hammerschmidt, M., Stevanin, G., Wirth, B. Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function. :Neurol. Genet. 4: e209, 2018. Note: Electronic Article. [PubMed: 29379881, related citations] | ||||||
| Mercier, S., Kury, S., Shaboodien, G., Houniet, D. T., Khumalo, N. P., Bou-Hanna, C., Bodak, N., Cormier-Daire, V., David, A., Faivre, L., Figarella-Branger, D., Gherardi, R. K., and 18 others. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am. J. Hum. Genet. 93: 1100-1107, 2013. | ||||||
| Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009 May 26;72(21):1802-9. Epub 2009 Mar 18. | ||||||
| Mercuri, E., A. D'Amico, et al. (2006). "POMT2 mutation in a patient with 'MEB-like' phenotype." Neuromuscul Disord 16(7): 446-8. PMID: 16701995 | ||||||
| Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. | ||||||
| Merezhinskaya, N., Fishbein, W. N., Davis, J. I., Foellmer, J. W. Mutations in MCT1 cDNA in patients with symptomatic deficiency in lactate transport. Muscle Nerve 23: 90-97, 2000. | ||||||
| Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A, Ferlini A, Gualandi F, Bonaldo P. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology. 2008 Oct 14;71(16):1245-53. | ||||||
| Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet. 2008 Apr;82(4):809-21. Epub 2008 Feb 28. | ||||||
| Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet. 2000 Jul;67(1):37-46. Epub 2000 Jun 07. | ||||||
| Messina DN, Speer MC, Pericak-Vance MA, McNally EM. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet. 1997 Oct;61(4):909-17. | ||||||
| Michiels, J. J., te Morsche, R. H. M., Jansen, J. B. M. J., Drenth, J. P. H. Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha-subunit Na(v)1.7. Arch. Neurol. 62: 1587-1590, 2005. | ||||||
| Mihalik, S. J.; Morrell, J. C.; Kim. D.; Sacksteder, K. A.; Watkins, P. A.; Gould, S. J. : Identification of PAHX, a Refsum disease gene. Nature Genet. 17: 185-189, 1997. | ||||||
| Milanesi, R.; Baruscotti, M.; Gnecchi-Ruscone, T.; DiFrancesco, D. Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. New Eng. J. Med. 354: 151-157, 2006. | ||||||
| Milasin, J.; Muntoni, F.; Severini, G. M.; Bartoloni, L.; Vatta, M.; Krajinovic, M.; Mateddu, A.; Angelini, C.; Camerini, F.; Falaschi, A.; Mestroni, L.; Giacca, M.; Heart Muscle Disease Study Group : A point mutation in the 5-prime splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum. Molec. Genet. 5: 73-79, 1996. | ||||||
| Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R. Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2003 Apr 25;304(1):1-4. | ||||||
| Minassian, B. A.; Aiyar, R.; Alic, S.; Banwell, B.; Villanova, M.; Fardeau, M.; Mandell, J. W.; Juel, V. C.; Rafii, M.; Auranen, M.; Kalimo, H. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 59: 596-601, 2002. | ||||||
| Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet. 1998 Apr;18(4):365-8. | ||||||
| Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet. 1996 Jan;5(1):159-163. | ||||||
| Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-51. | ||||||
| Miyatake, S., Mitsuhashi, S., Hayashi, Y. K., Purevjav, E., Nishikawa, A., Koshimizu, E., Suzuki, M., Yatabe, K., Tanaka, Y., Ogata, K., Kuru, S., Shiina, M., and 11 others. Biallelic mutations in MYPN, encoding myopalladin, are associated with childhood-onset, slowly progressive nemaline myopathy. Am. J. Hum. Genet. 100: 169-178, 2017. | ||||||
| Mochel, F.; Knight, M. A.; Tong, W.-H.; Hernandez, D.; Ayyad, K.; Taivassalo, T.; Andersen, P. M.; Singleton, A.; Rouault, T. A.; Fischbeck, K. H.; Haller, R. G. Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am. J. Hum. Genet. 82: 652-660, 2008. | ||||||
| Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999 May 15;103(10):R39-43. | ||||||
| Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, Burke M, Elliott PM, McKenna WJ. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40. | ||||||
| Mogensen, J.; Kubo, T.; Duque, M.; Uribe, W.; Shaw, A.; Murphy, R.; Gimeno, J. R.; Elliott, P.; McKenna, W. J. : Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. J. Clin. Invest. 111: 209-216, 2003. | ||||||
| Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tome FM, Guicheney P. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. Am J Hum Genet. 1998 Jun;62(6):1439-45. | ||||||
| Moghadaszadeh B, Petit N, Jaillard C, Brockington M, Roy SQ, Merlini L, Romero N, Estournet B, Desguerre I, Chaigne D, Muntoni F, Topaloglu H, Guicheney P. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet. 2001 Sep;29(1):17-8. | ||||||
| Mohapatra B, Jimenez S, Lin JH, Bowles KR, Coveler KJ, Marx JG, Chrisco MA, Murphy RT, Lurie PR, Schwartz RJ, Elliott PM, Vatta M, McKenna W, Towbin JA, Bowles NE. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15. | ||||||
| Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. PMID: 34059824. | ||||||
| Mohler, P. J.; Schott, J.-J.; Gramolini, A. O.; Dilly, K. W.; Guatimosim, S.; duBell, W. H.; Song, L.-S.; Haurogne, K.; Kyndt, F.; Ali, M. E.; Rogers, T. B.; Lederer, W. J.; Escande, D.; Le Marec, H.; Bennett, V. : Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421: 634-639, 2003. | ||||||
| Mohler, P. J.; Splawski, I.; Napolitano, C.; Bottelli, G.; Sharpe, L.; Timothy, K.; Priori, S. G.; Keating, M. T.; Bennett, V. : A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc. Nat. Acad. Sci. 101: 9137-9142, 2004. | ||||||
| Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, R²∂tig A. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet. 2008 Mar;82(3):623-30. | ||||||
| Monaco AP, Neve RL, Colletti-Feener C, Bertelson CJ, Kurnit DM, Kunkel LM. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature. 1986 Oct 16-22;323(6089):646-50. | ||||||
| Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, Lunardi J. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 2003; 12: 1171-8. | ||||||
| Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord. 2009 Feb;19(2):118-23. Epub 2009 Jan 19. | ||||||
| Monnier, N.; Procaccio, V.; Stieglitz, P.; Lunardi, J. : Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet. 60: 1316-1325, 1997. | ||||||
| Monserrat, L., Hermida-Prieto, M., Fernandez, X., Rodriguez, I., Dumont, C., Cazon, L., Cuesta, M. G., Gonzalez-Juanatey, C., Peteiro, J., Alvarez, N., Penas-Lado, M., Castro-Beiras, A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Europ. Heart J. 28: 1953-1961, 2007. | ||||||
| Montecchiani, C., Pedace, L., Lo Giudice, T., Casella, A., Mearini, M., Gaudiello, F., Pedroso, J. L., Terracciano, C., Caltagirone, C., Massa, R., St George-Hyslop, P. H., Barsottini, O. G. P., Kawarai, T., Orlacchio, A. ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease. Brain 139: 73-85, 2016. | ||||||
| Montenegro, G., Rebelo, A. P., Connell, J., Allison, R., Babalini, C., D'Aloia, M., Montieri, P., Schule, R., Ishiura, H., Price, J., Strickland, A., Gonzalez, M. A., and 13 others. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J. Clin. Invest. 122: 538-544, 2012. | ||||||
| Montes-Chinea NI, Guan Z, Coutts M, Vidal C, Courel S, Rebelo AP, Abreu L, Zuchner S, Littleton JT, Saporta MA. Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype. Neurol Genet. 2018 Oct 22;4(6):e282. doi: 10.1212/NXG.0000000000000282. eCollection 2018 Dec. | ||||||
| Morales-Rosado, J. A., Schwab, T. L., Macklin-Mantia, S. K., Foley, A. R., Pinto e Vairo, F., Pehlivan, D., Donkervoort, S., Rosenfeld, J. A., Boyum, G. E., Hu, Y., Cong, A. T. Q., Lotze, T. E., and 18 others. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am. J. Hum. Genet. 110: 989-997, 2023. [PubMed: 37167966] | ||||||
| Moreira ES, Vainzof M, Marie SK, Sertie AL, Zatz M, Passos-Bueno MR. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am J Hum Genet. 1997 Jul;61(1):151-9. | ||||||
| Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, Valle G, Reeves R, Zatz M, Passos-Bueno MR, Jenne DE. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet. 2000 Feb;24(2):163-6. | ||||||
| Moreira, M.-C.; Barbot, C.; Tachi, N.; Kozuka, N.; Uchida, E.; Gibson, T.; Mendonca, P.; Costa, M.; Barros, J.; Yanagisawa, T.; Watanabe, M.; Ikeda, Y.; Aoki, M.; Nagata, T.; Coutinho, P.; Sequeiros, J.; Koenig, M. : The gene mutated in ataxia-oculomotor apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nature Genet. 29: 189-193, 2001. | ||||||
| Moreira, M.-C.; Klur, S.; Watanabe, M.; Nemeth, A. H.; Le Ber, I.; Moniz, J.-C.; Tranchant, C.; Aubourg, P.; Tazir, M.; Schols, L.; Pandolfo, P.; Schulz, J. B.; and 22 others : Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. Nature Genet. 36: 225-227, 2004. | ||||||
| Moreno-De-Luca, A., Helmers, S. L., Mao, H., Burns, T. G., Melton, A. M. A., Schmidt, K. R., Fernhoff, P. M., Ledbetter, D. H., Martin, C. L. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J. Med. Genet. 48: 141-144, 2011. | ||||||
| Morgan, N. V.; Brueton, L. A.; Cox, P.; Greally, M. T.; Tolmie, J.; Pasha, S.; Aligianis, I. A.; van Bokhoven, H.; Marton, T.; Al-Gazali, L.; Morton, J. E. V.; Oley, C.; Johnson, C. A.; Trembath, R. C.; Brunner, H. G.; Maher, E. R. : Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet. 79: 390-395, 2006. | ||||||
| Morino, H., Matsuda, Y., Mugurama, K., Miyamoto, R., Ohsawa, R., Ohtake, T., Otobe, R., Watanabe, M., Maruyama, H., Hashimoto, K., Kawakami, H. A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia. Molec. Brain 8: 89, 2015. Note: Electronic Article. | ||||||
| Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, Mitchell JE, Habgood JJ, de Belleroche J, Xi J, Jongjaroenprasert W, Horvitz HR, Gunnarsson LG, Brown RH Jr. A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006 Mar 28;66(6):839-44. Epub 2006 Jan 18. | ||||||
| Morton S.U., Prabhu S.P., Lidov H.G.W., Shi J., Anselm I., Brownstein C.A., et al. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 Mar;3(2): a001560. doi: 10.1101/mcs.a001560. | ||||||
| Moslehi R, Langlois S, Yam I, Friedman JM. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet. 1998 Feb 26;76(1):21-7. | ||||||
| Moslemi, A.-R., Lindberg, C., Nilsson, J., Tajsharghi, H., Andersson, B., Oldfors, A. Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. New Eng. J. Med. 362: 1203-1210, 2010. | ||||||
| Moulik M, Vatta M, Witt SH, Arola AM, Murphy RT, McKenna WJ, Boriek AM, Oka K, Labeit S, Bowles NE, Arimura T, Kimura A, Towbin JA. ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene. J Am Coll Cardiol. 2009 Jul 21;54(4):325-33. | ||||||
| Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22;9(9):1453-9. | ||||||
| Muglia, M., Magariello, A., Citrigno, L., Passamonti, L., Sprovieri, T., Conforti, F. L., Mazzei, R., Patitucci, A., Gabriele, A. L., Ungaro, C., Bellesi, M., Quattrone, A. A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2. Clin. Genet. 73: 486-491, 2008. | ||||||
| Muglia, M.; Criscuolo, C.; Magariello, A.; De Michele, G.; Scarano, V.; D'Adamo, P.; Ambrosio, G.; Gabriele, A. L.; Patitucci, A.; Mazzei, R.; Conforti, F. L.; Sprovieri, T.; Morgante, L.; Epifanio, A.; La Spina, P.; Valentino, P.; Gasparini, P.; Filla, A.; Quattrone, A. : Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus. Neurogenetics 5: 49-54, 2004. | ||||||
| Muhammad E, Reish O, Ohno Y, et al. Congenital Myopathy is Caused by Mutation of HACD1. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. | ||||||
| Muller K., Andersen P.M., Hubers A., et al. Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. (Letter). Brain 2014;137:e309 | ||||||
| Munch C, Rosenbohm A, Sperfeld AD et al. Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Ann Neurol 2005;58:777-80 | ||||||
| Muntoni, F.; Cau, M.; Ganau, A.; Congiu, R.; Arvedi, G.; Mateddu, A.; Marrosu, M. G.; Cianchetti, C.; Realdi, G.; Cao, A.; Melis, M. A. : Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. New Eng. J. Med. 329: 921-925, 1993. | ||||||
| Murakami, T.; Hayashi, Y. K.; Noguchi, S.; Ogawa, M.; Nonaka, I.; Tanabe, Y.; Ogino, M.; Takada, F.; Eriguchi, M.; Kotooka, N.; Campbell, K. P.; Osawa, M.; Nishino, I. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness Ann Neurol, 2006, 60, 597-602 | ||||||
| Musumeci, O.; Rodolico, C.; Nishino, I.; Di Guardo, G.; Migliorato, A.; Aguennouz, M.; Mazzeo, A.; Messina, C.; Vita, G.; Toscano, A. : Asymptomatic hyperCKemia in a case of Danon disease due to a missense mutation in the Lamp-2 gene. Neuromusc. Disord. 15: 409-411, 2005. | ||||||
| Nadal, N.; Rolland, M.-O.; Tranchant, C.; Reutenauer, L.; Gyapay, G.; Warter, J.-M.; Mandel, J.-L.; Koenig, M. : Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Molec. Genet. 4: 1963-1966, 1995. | ||||||
| Nagaoka, U.; Takashima, M.; Ishikawa, K.; Yoshizawa, K.; Yoshizawa, T.; Ishikawa, M.; Yamawaki, T.; Shoji, S.; Mizusawa, H. A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia. Neurology 54: 1971-1975, 2000. | ||||||
| Nahorski MS, Al-Gazali L, Hertecant J, Owen DJ, Borner GH, Chen YC, Benn CL, Carvalho OP, Shaikh SS, Phelan A, Robinson MS, Royle SJ, Woods CG. A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development. Brain. 2015 Aug;138(Pt 8):2147-60. doi: 10.1093/brain/awv149. Epub 2015 Jun 11. | ||||||
| Nakano, M.; Yamada, K.; Fain, J.; Sener, E. C.; Selleck, C. J.; Awad, A. H.; Zwaan, J.; Mullaney, P. B.; Bosley, T. M.; Engle, E. C. : Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genet. 29: 315-320, 2001. | ||||||
| Nakhro K PJ, Hong YB, Park JH, et al. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013; un 7. | ||||||
| Narcisi TM, Shoulders CC, Chester SA, Read J, Brett DJ, Harrison GB, Grantham TT, Fox MF, Povey S, de Bruin TW and et al. Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. Am J Hum Genet 1995;57:1298-310. | ||||||
| Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. Epub 2007 Jul 24. | ||||||
| Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet. 2007 Sep;81(3):589-95. Epub 2007 Jul 24. | ||||||
| Nasca A, Legati A, Meneri M, Ermert ME, Frascarelli C, Zanetti N, Garbellini M, Comi GP, Catania A, Lamperti C, Ronchi D, Ghezzi D. Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions. Cells. 2022 Mar 12;11(6):974. doi: 10.3390/cells11060974. PMID: 35326425; PMCID: PMC8946636. | ||||||
| Nasca A, Scotton C, Zaharieva I, Neri M, Selvatici R, Magnusson OT, Gal A, Weaver D, Rossi R, Armaroli A, Pane M, Phadke R, Sarkozy A, Muntoni F, Hughes I, Cecconi A, Hajnóczky G, Donati A, Mercuri E, Zeviani M, Ferlini A, Ghezzi D. Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6. | ||||||
| Nascimento A, Bruels CC, Donkervoort S, Foley AR, Codina A, Milisenda JC, Estrella EA, Li C, Pijuan J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Expósito-Escudero J, Yubero D, Martorell L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez C, Palau F, Ghosh PS, Darras BT, Jou C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB, Natera-de Benito D. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. Acta Neuropathol. 2023 Apr;145(4):479-496. doi: 10.1007/s00401-023-02551-7. Epub 2023 Feb 17. PMID: 36799992. [item 1.58] | ||||||
| Naviaux, R. K., Nguyen, K. V. POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann. Neurol. 55: 706-712, 2004. | ||||||
| Nazli A., Safdar A., Saleem A., Akhtar M., Brady L.I., Schwartzentruber J., et al. A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. Eur J Hum Genet. 2017 Jun;25(6):744-751. doi: 10.1038/ejhg.2017.20. Epub 2017 Mar 15. | ||||||
| Nelis, E., Erdem, S., Van den Bergh, P. Y. K., Belpaire-Dethiou, M.-C., Ceuterick, C., Van Gerwen, V., Cuesta, A., Pedrola, L., Palau, F., Gabreels-Festen, A. A. W. M., Verellen, C., Tan, E., Demirci, M., Van Broeckhoven, C., De Jonghe, P., Topaloglu, H., Timmerman, V. Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59: 1865-1872, 2002. | ||||||
| Nelis, E.; Berciano, J.; Verpoorten, N.; Coen, K.; Dierick, I.; Van Gerwen, V.; Combarros, O.; De Jonghe, P.; Timmerman, V. : Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. J. Med. Genet. 41: 193-197, 2004. | ||||||
| Nelis, E.; De Jonghe, P.; De Vriendt, E.; Patel, P. I.; Martin, J.-J.; Van Broeckhoven, C. : Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP. J. Med. Genet. 35: 590-593, 1998. | ||||||
| Nesin V, Wiley G, Kousi M, Ong EC, Lehmann T, Nicholl DJ, Suri M, Shahrizaila N, Katsanis N, Gaffney PM, Wierenga KJ, Tsiokas L. Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):4197-202. doi: 10.1073/pnas.1312520111. Epub 2014 Mar 3. | ||||||
| Neveling, K., Martinez-Carrera, L. A., Holker, I., Heister, A., Verrips, A., Hosseini-Barkooie, S. M., Gilissen, C., Vermeer, S., Pennings, M., Meijer, R., te Riele, M., Frijns, C. J. M., and 12 others. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am. J. Hum. Genet. 92: 946-954, 2013. | ||||||
| Neyroud N, Tesson F, Denjoy I, Leibovici M, Donger C, Barhanin J, Faure S, Gary F, Coumel P, Petit C, Schwartz K, Guicheney P. A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet. 1997 Feb;15(2):186-9. | ||||||
| Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet. 1999 Jan;21(1):91-4. | ||||||
| Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. Am J Hum Genet. 2020 Apr 2;106(4):484-495. doi: 10.1016/j.ajhg.2020.03.001. Epub 2020 Mar 26. PMID: 32220290; PMCID: PMC7118585. | ||||||
| Nguyen, K. V., Ostergaard, E., Ravn, S. H., Balslev, T., Danielsen, E. R., Vardag, A., McKiernan, P. J., Gray, G., Naviaux, R. K. POLG mutations in Alpers syndrome. Neurology 65: 1493-1495, 2005. | ||||||
| Ni J, Liu Z, Li W, Yuan Y, Huang L, Hu Y, Liu P, Hou X, Jiao B, Li J, Shen L, Jiang H, Tang B, Wang J. Rare, pathogenic variants in LRP10 are associated with amyotrophic lateral sclerosis in patients from mainland China. Neurobiol Aging. 2021 Jan;97:145.e17-145.e22. doi: 10.1016/j.neurobiolaging.2020.06.013. Epub 2020 Jun 25. PMID: 32690342. | ||||||
| Nibbeling, E. A. R., Duarri, A., Verschuuren-Bemelmans, C. C., Fokkens, M. R., Karjalainen, J. M., Smeets, C. J. L. M., de Boer-Bergsma, J. J., van der Vries, G., Dooijes, D., Bampi, G. B., van Diemen, C., Brunt, E., and 9 others. Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. Brain 140: 2860-2878, 2017. | ||||||
| Nicholls, T. J., Nadalutti, C. A., Motori, E., Sommerville, E. W., Gorman, G. S., Basu, S., Hoberg, E., Turnbull, D. M., Chinnery, P. F., Larsson, N.-G., Larsson, E., Falkenberg, M., Taylor, R. W., Griffith, J. D., Gustafsson, C. M. Topoisomerase 3-alpha is required for decatenation and segregation of human mtDNA. Molec. Cell 69: 9-23, 2018. | ||||||
| Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, Nash J, Bananis T. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996 May;13(1):101-4. | ||||||
| Nicholson GA, Valentijn LJ, Cherryson AK, Kennerson ML, Bragg TL, DeKroon RM, Ross DA, Pollard JD, McLeod JG, Bolhuis PA, et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet. 1994 Mar;6(3):263-6. Erratum in: Nat Genet 1994 May;7(1):113. | ||||||
| Nicolao P, Xiang F, Gunnarsson LG, Giometto B Edstro¨m L, Anvret M, Zhang Z. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999;64:788-792. | ||||||
| Nicolaou P, Cianchetti C, Minaidou A, Marrosu G, Zamba-Papanicolaou E, Middleton L, Christodoulou K. A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. Eur J Hum Genet. 2012 Jul 11. doi: 10.1038/ejhg.2012.146. | ||||||
| Nicolas, A., Kenna, K. P., Renton, A. E., Ticozzi, N., Faghri, F., Chia, R., Dominov, J. A., Kenna, B. J., Nalls, M. A., Keagle, P., Rivera, A. M., van Rheenen, W., and 201 others. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron 97: 1268-1283, 2018. [PubMed: 29566793, | ||||||
| Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. 1995 Sep;4(9):1633-6. | ||||||
| Nicot A S, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, Iwarsson E, Kingston H, Garnier J M, Biancalana V, Oldfors A, Mandel J L, Laporte J. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007; 39: 1134-1139. | ||||||
| Nigro V, Bruni P, Ciccodicola A, Politano L, Nigro G, Piluso G, Cappa V, Covone AE, Romeo G, D'Urso M. SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet. 1995 Oct;4(10):2003-4. | ||||||
| Nigro V, de Sa Moreira E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet. 1996 Oct;14(2):195-8. | ||||||
| Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T and Peltonen L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14:2981-90. | ||||||
| Nikali, K.; Isosomppi, J.; Lonnqvist, T.; Mao, J.; Suomalainen, A.; Peltonen, L. : Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24. Genomics 39: 185-191, 1997. | ||||||
| Nilipour Y, Nafissi S, Tjust AE, Ravenscroft G, Hossein Nejad Nedai H, Taylor RL, Varasteh V, Pedrosa Domellöf F, Zangi M, Tonekaboni SH, Olivé M, Kiiski K, Sagath L, Davis MR, Laing NG, Tajsharghi H. Ryanodine receptor type 3 (RYR3) as a novel gene associated with a myopathy with nemaline bodies. Eur J Neurol. 2018 Jun;25(6):841-847. doi: 10.1111/ene.13607. Epub 2018 Mar 26. | ||||||
| Nilsson J, Schoser B, Laforet P, et al. Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1. Ann Neurol. 2013 Jun 24 | ||||||
| Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Oliveira, J. R. M.; Vainzof, M.; Zatz, M. : A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13. J. Med. Genet. 41: 315-320, 2004. | ||||||
| Nishimura, A. L.; Mitne-Neto, M.; Silva, H. C. A.; Richieri-Costa, A.; Middleton, S.; Cascio, D.; Kok, F.; Oliveira, J. R. M.; Gillingwater, T.; Webb, J.; Skehel, P.; Zatz, M. : A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75: 822-831, 2004. | ||||||
| Nishino, I., Spinazzola, A., Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692, 1999. | ||||||
| Nishizawa, M.; Kaneko, J.; Tanaka, H.; Tsuji, S.; Tashiro, K. : A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann. Neurol. 48: 156-163, 2000. | ||||||
| Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bonnemann CG, Gussoni E, Denton PH, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science. 1995 Nov 3;270(5237):819-22. | ||||||
| Norton, N., Li, D., Rieder, M. J., Siegfried, J. D., Rampersaud, E., Zuchner, S., Mangos, S., Gonzalez-Quintana, J., Wang, L., McGee, S., Reiser, J., Martin, E., Nickerson, D. A., Hershberger, R. E. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am. J. Hum. Genet. 88: 273-282, 2011. | ||||||
| Noury J.B., Maisonobe T., Richard P., Delague V., Malfatti E., Stojkovic T. Rigid spine syndrome associated with sensorymotor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement. Muscle Nerve. 2017 Feb 22. doi: 10.1002/mus.25631. | ||||||
| Nousiainen HO, Kestil²§ M, Pakkasj²§rvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet. 2008 Feb;40(2):155-7. Epub 2008 Jan 20. | ||||||
| Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J. L., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., and 41 others. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511, 2014.[PubMed: 24482476 | ||||||
| Novarino, G., Fenstermaker, A. G., Zaki, M. S., Hofree, M., Silhavy, J., Heiberg, A. D., Abdellateef, M., Rosti, B., Scott, E., Mansour, L., Masri, A., Kayserili, H., and 41 others. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343: 506-511, 2014 | ||||||
| Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212. | ||||||
| Nowak, K. J., Wattanasirichaigoon, D., Goebel, H. H., Wilce, M., Pelin, K., Donner, K., Jacob, R. L., Hubner, C., Oexle, K., Anderson, J. R., Verity, C. M., North, K. N., and 13 others. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet. 23: 208-212, 1999. [PubMed: 10508519, related citations] [Full Text] | ||||||
| Nyegaard, M., Overgaard, M. T., Sondergaard, M. T., Vranas, M., Behr, E. R., Hildebrandt, L. L., Lund, J., Hedley, P. L., Camm, A. J., Wettrell, G., Fosdal, I., Christiansen, M., Borglum, A. D. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am. J. Hum. Genet. 91: 703-712, 2012. | ||||||
| O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine. Eur J Hum Genet. 2014 Sep 3. doi: 10.1038/ejhg.2014.169. | ||||||
| O'Grady, G. L., Verschuuren, C., Yuen, M., Webster, R., Menezes, M., Fock, J. M., Pride, N., Best, H. A., Benavides Damm, T., Turner, C., Lek, M., Engel, A. G., North, K. N., Clarke, N. F., MacArthur, D. G., Kamsteeg, E.-J., Cooper, S. T. Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome. Neurology 87: 1442-1448, 2016. | ||||||
| O’Connor E., Topf A., Müller J.S., et al. Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome. Brain 2016; 139:2143–2153. | ||||||
| O’Grady G.L., Best H.A., Sztal T.E., et al. Variants in the oxidoreductase PYROXD1 cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. Am J Hum Genet 2016. | ||||||
| Oates, E. C., Rossor, A. M., Hafezparast, M., Gonzalez, M., Speziani, F., MacArthur, D. G., Lek, M., Cottenie, E., Scoto, M., Foley, A. R., Hurles, M., Houlden, H., and 15 others. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum. Genet. 92: 965-973, 2013. | ||||||
| Ochala J, Li M, Tajsharghi H, Kimber E, Tulinius M, Oldfors A, Larsson L. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol 2007;581:1283-1292. | ||||||
| Ochoa, J. P., Sabater-Molina, M., Garcia-Pinilla, J. M., Mogensen, J., Restrepo-Cordoba, A., Palomino-Doza, J., Villacorta, E., Martinez-Moreno, M., Ramos-Maqueda, J., Zorio, E., Pena-Pena, M. L., Garcia-Granja, P. E., and 38 others. Formin homology 2 domain containing 3 (FHOD3) is a genetic basis for hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 72: 2457-2467, 2018. | ||||||
| Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet. 1996 Oct;14(2):191-4. | ||||||
| Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol Commun. 2020 Nov 25;8(1):204. doi: 10.1186/s40478-020-01084-4. PMID: 33239111; PMCID: PMC7690190. | ||||||
| Ogawa, A.; Yamamoto, S.; Kanazawa, M.; Takayanagi, M.; Hasegawa, S.; Kohno, Y. : Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. J. Hum. Genet. 45: 52-55, 2000. | ||||||
| Ohkawara B., Cabrera-Serrano M., Nakata T. LRP4 third betapropeller domain mutations cause novel congenital | ||||||
| Ohlsson M, Fidzianska A, Tajsharghi H, Oldfors A. TPM3 mutation in one of the original cases of cap disease. Neurology. 2009 Jun 2;72(22):1961-3. | ||||||
| Ohno K, Hutchinson DO, Milone M, Brengman JM, Bouzat C, Sine SM, Engel AG. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62. | ||||||
| Ohno K, Quiram PA, Milone M, et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of 6 new mutations. Hum Mol Genet 1997;6:753-767. | ||||||
| Ohno K, Wang HL, Milone M, Bren N, Brengman JM, Nakano S, Quiram P, Pruitt JN, Sine SM, Engel AG. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron. 1996 Jul;17(1):157-70. | ||||||
| Ohno, K.; Engel, A. G.; Shen, X.-M.; Selcen, D.; Brengman, J.; Harper, C. M.; Tsujino, A.; Milone, M. : Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am. J. Hum. Genet. 70: 875-885, 2002. | ||||||
| Ohno, K.; Sadeh, M.; Blatt, I.; Brengman, J. M.; Engel, A. G. : E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome. Hum. Molec. Genet. 12: 39-748, 2003 | ||||||
| Ohno, K.; Tsujino, A.; Brengman, J. M.; Harper, C. M.; Bajzer, Z.; Udd, B.; Beyring, R.; Robb, S.; Kirkham, F. J.; Engel, A. G. : Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc. Nat. Acad. Sci. 98: 2017-2022, 2001. | ||||||
| Okamoto, N., Miya, F., Tsunoda, T., Kanemura, Y., Saitoh, S., Kato, M., Yanagi, K., Kaname, T., Kosaki, K. Four pedigrees with aminoacyl-tRNA synthetase abnormalities. Neurol. Sci. 43: 2765-2774, 2022.[PubMed: 34585293] | ||||||
| Olesen, M. S., Jespersen, T., Nielsen, J. B., Liang, B., Moller, D. V., Hedley, P., Christiansen, M., Varro, A., Olesen, S.-P., Haunso, S., Schmitt, N., Svendsen, J. H. Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation. Cardiovasc. Res. 89: 786-793, 2011. | ||||||
| Olivé M, Abdul-Hussein S, Oldfors A, González-Costello J, van der Ven PF, Fürst DO, González L, Moreno D, Torrejón-Escribano B, Alió J, Pou A, Ferrer I, Tajsharghi H. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations. Hum Mol Genet. 2015 Nov 1;24(21):6264. doi: 10.1093/hmg/ddv311. Epub 2015 Sep 7. | ||||||
| Olive M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions. Nat Commun. 2019 Mar 27;10(1):1396. | ||||||
| Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007;130:2045-2054 | ||||||
| Olsen, R. K. J.; Andresen, B. S.; Christensen, E.; Bross, P.; Skovby, F.; Gregersen, N. : Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum. Mutat. 22: 12-23, 2003. | ||||||
| Olson TM, Illenberger S, Kishimoto NY, Huttelmaier S, Keating MT, Jockusch BM. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation. 2002 Jan 29;105(4):431-7. | ||||||
| Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol. 2001 Apr;33(4):723-32. | ||||||
| Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998 May 1;280(5364):750-2. | ||||||
| Olson, T. M., Alekseev, A. E., Moreau, C., Liu, X. K., Zingman, L. V., Miki, T., Seino, S., Asirvatham, S. J., Jahangir, A., Terzic, A. K(ATP) channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. Nat. Clin. Pract. Cardiovasc. Med. 4: 110-116, 2007. | ||||||
| Olson, T. M.; Alekseev, A. E.; Liu, X. K.; Park, S.; Zingman, L. V.; Bienengraeber, M.; Sattiraju, S.; Ballew, J. D.; Jahangir, A.; Terzic, A. Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation. Hum. Molec. Genet. 15: 2185-2191, 2006. | ||||||
| Onengut, S.; Ugur, S. A.; Karasoy, H.; Yuceyar, N.; Tolun, A. : Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2-p21.32. Neuromusc. Disord. 14: 4-9, 2004. | ||||||
| Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996 Nov 1;87(3):543-52. | ||||||
| Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R, Bernardi G, Kawarai T. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008 May 20;70(21):1959-66. Epub 2008 Apr 9. | ||||||
| Orlacchio A., Babalini C., Borreca A., et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 2010;133:591–8 | ||||||
| Orlacchio, A.; Kawarai, T.; Gaudiello, F.; St George-Hyslop, P. H.; Floris, R.; Bernardi, G.: New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann. Neurol. 58: 423-429, 2005. | ||||||
| Orlacchio, A.; Kawarai, T.; Rogaeva, E.; Song, Y. Q.; Paterson, A. D.; Bernardi, G.; St. George-Hyslop, P. H. : Clinical and genetic study of a large Italian family linked to SPG12 locus. Neurology 59: 1395-1401, 2002. | ||||||
| Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993 Jul;4(3):221-6. | ||||||
| Orr, N., Arnaout, R., Gula, L. J., Spears, D. A., Leong-Sit, P., Li, Q., Tarhuni, W., Reischauer, S., Chauhan, V. S., Borkovich, M., Uppal, S., Adler, A., Coughlin, S. R., Stainier, D. Y. R., Gollob, M. H. A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. Nature Commun 7: 11303, 2016. | ||||||
| Orthmann-Murphy, J. L., Salsano, E., Abrams, C. K., Bizzi, A., Uziel, G., Freidin, M. M., Lamantea, E., Zeviani, M., Scherer, S. S., Pareyson, D. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain 132: 426-438, 2009 | ||||||
| Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Quintáns B, Millán BS, Carracedo A, Navarro C, Sobrido MJ. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011 Apr;21(4):254-62. Epub 2011 Feb 1. | ||||||
| Osborn, D. P. S., Pond, H. L., Mazaheri, N., Dejardin, J., Munn, C. J., Mushref, K., Cauley, E. S., Moroni, I., Pasanisi, M. B., Sellars, E. A., Hill, R. S., Partlow, J. N., and 12 others. Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjogren syndrome and dystroglycanopathy. Am. J. Hum. Genet. 100: 537-545, 2017. | ||||||
| Osio A, Tan L, Chen SN, Lombardi R, Nagueh SF, Shete S, Roberts R, Willerson JT, Marian AJ. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. Circ Res. 2007 Mar 30;100(6):766-8. Epub 2007 Mar 8. | ||||||
| Ostergaard, E., Christensen, E., Kristensen, E., Mogensen, B., Duno, M., Shoubridge, E. A., Wibrand, F. Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am. J. Hum. Genet. 81: 383-387, 2007. | ||||||
| Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb;9(2):141-5. | ||||||
| Oz-Levi, D., Ben-Zeev, B., Ruzzo, E. K., Hitomi, Y., Gelman, A., Pelak, K., Anikster, Y., Reznik-Wolf, H., Bar-Joseph, I., Olender, T., Alkelai, A., Weiss, M., Ben-Asher, E., Ge, D., Shianna, K. V., Elazar, Z., Goldstein, D. B., Pras, E., Lancet, D. Mutation in TECPR2reveals a role for autophagy in hereditary spastic paraparesis. Am. J. Hum. Genet. 91: 1065-1072, 2012 | ||||||
| Ozelius, L. J.; Hewett, J. W.; Page, C. E.; Bressman, S. B.; Kramer, P. L.; Shalish, C.; de Leon, D.; Brin, M. F.; Raymond, D.; Corey, D. P.; Fahn, S.; Risch, N. J.; Buckler, A. J.; Gusella, J. F.; Breakefield, X. O. : The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nature Genet. 17: 40-48, 1997. | ||||||
| P²©nisson-Besnier I, et al. (1998). Autosomal dominant late adult onset distal leg myopathy. Neuromsuc Disord 8:459-466. | ||||||
| P²©nisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O and Udd B. Myotilinopathy in a late onset myopathy family. Neuromusc Disord 2006; 16:427-31. | ||||||
| Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305. | ||||||
| Pagnamenta, A. T., Kaiyrzhanov, R., Zou, Y., Da'as, S. I., Maroofian, R., Donkervoort, S., Dominik, N., Lauffer, M., Ferla, M. P., Orioli, A., Giess, A., Tucci, A., and 43 others. An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 144: 584-600, 2021. [PubMed: 33559681 | ||||||
| Palenzuela, L.; Andreu, A. L.; Gamez, J.; Vila, M. R.; Kunimatsu, T.; Meseguer, A.; Cervera, C.; Fernandez Cadenas, I.; van der Ven, P. F. M.; Nygaard, T. G.; Bonilla, E.; Hirano, M. : A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 61: 404-406, 2003. | ||||||
| Palmieri, L., Alberio, S., Pisano, I., Lodi, T., Meznaric-Petrusa, M., Zidar, J., Santoro, A., Scarcia, P., Fontanesi, F., Lamantea, E., Ferrero, I., Zeviani, M. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum. Molec. Genet. 14: 3079-3088, 2005. | ||||||
| Palmio J, Jonson PH, Inoue M, et al. Mutations in the J domain of DNAJB6 cause dominant distal myopathy. Neuromuscul Disord. 2020;30(1):38-46. doi:10.1016/j.nmd.2019.11.005 | ||||||
| Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008. | ||||||
| Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12. | ||||||
| Pan, T.-C.; Zhang, R.-Z.; Sudano, D. G.; Marie, S. K.; Bonnemann, C. G.; Chu, M.-L.: New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am. J. Hum. Genet. 73: 355-369, 2003. | ||||||
| Pandolfo M, Rai M, Remiche G, Desmyter L, Vandernoot I. Cerebellar ataxia, neuropathy, hearing loss, and intellectual disability due to AIFM1 mutation. Neurol Genet. 2020 Apr 9;6(3):e420. doi: 10.1212/NXG.0000000000000420. PMID: 32337346; PMCID: PMC7164969. | ||||||
| Panza, E., Escamilla-Honrubia, J. M., Marco-Marin, C., Gougeard, N., De Michele, G., Brescia Morra, V., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Nemeth, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V., Seri, M. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. (Letter) Brain 139: e3, 2016. Note: Electronic Article. | ||||||
| Park, H. J., Hong, Y. B., Choi, Y.-C., Lee, J., Kim, E. J., Lee, J.-S., Mo, W. M., Ki, S. M., Kim, H. I., Kim, H. J., Hyun, Y. S., Hong, H. D., and 11 others. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann. Neurol. 79: 231-243, 2016. | ||||||
| Park, J., Tucci, A., Cipriani, V., Demidov, G., Rocca, C., Senderek, J., Butryn, M., Velic, A., Lam, T., Galanaki, E., Cali, E., Vestito, L., and 38 others. Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy. Genet. Med. 24: 2079-2090, 2022. [PubMed: 35986737, | ||||||
| Parkinson, N., Ince, P. G., Smith, M. O., Highley, R., Skibinski, G., Andersen, P. M., Morrison, K. E., Pall, H. S., Hardiman, O., Collinge, J., Shaw, P. J., Disher, E. M. C., MRC Proteomics in ALS Study and the FReJA Consortium. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67: 1074-1077, 2006. | ||||||
| Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 1996 Jun;5(6):815-20. | ||||||
| Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159-65. | ||||||
| Patel, H.; Cross, H.; Proukakis, C.; Hershberger, R.; Bork, P.; Ciccarelli, F. D.; Patton, M. A.; McKusick, V. A.; Crosby, A. H. : SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet. 31: 347-348, 2002. | ||||||
| Patel, N., Smith, L. L., Faqeih, E., Mohamed, J., Gupta, V. A., Alkuraya, F. S. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). Hum. Molec. Genet. 23: 6584-6593, 2014. | ||||||
| Peddy, S. B., Vricella, L. A., Crosson, J. E., Oswald, G. L., Cohn, R. D., Cameron, D. E., Valle, D., Loeys, B. L. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics 117: 1830-1833, 2006. | ||||||
| Pedroso J.L., Rocha C.R., Macedo-Souza L.I., et al. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurol Genet 2015;1:e30. | ||||||
| Peeters, K., Litvinenko, I., Asselbergh, B., Almeida-Souza, L., Chamova, T., Geuens, T., Ydens, E., Zimon, M., Irobi, J., De Vriendt, E., De Winter, V., Ooms, T., Timmerman, V., Tournev, I., Jordanova, A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am. J. Hum. Genet. 92: 955-964, 2013. | ||||||
| Pegoraro, E., Gavassini, B. F., Borsato, C., Melacini, P., Vianello, A., Stramere, R., Cenacchi, G., Angelini, C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromusc. Disord. 17: 321-329, 2007. | ||||||
| Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17. | ||||||
| Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. | ||||||
| Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 1996 Apr;46(4):1128-32. | ||||||
| Pellerin, D., Danzi, M. C., Wilke, C., Renaud, M., Fazal, S., Dicaire, M.-J., Scriba, C. K., Ashton, C., Yanick, C., Beijer, D., Rebelo, A., Rocca, C., and 40 others. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. New Eng. J. Med. 388: 128-141, 2023.[PubMed: 36516086] | ||||||
| Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25. | ||||||
| Perez-Siles G, Ellis M, Ashe A, Grosz B, Vucic S, Kiernan MC, Morris KA, Reddel SW, Kennerson ML. A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4). Front Genet. 2022 Jan 19;12:801253. doi: 10.3389/fgene.2021.801253. PMID: 35126465; PMCID: PMC8807693 | ||||||
| Pericak-Vance, M. A.; Speer, M. C.; Lennon, F.; West, S. G.; Menold, M. M.; Stajich, J. M.; Wolpert, C. M.; Slotterbeck, B. D.; Saito, M.; Tim, R. W.; Rozear, M. P.; Middleton, L. T.; Tsuji, S.; Vance, J. M. : Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93, 1997. | ||||||
| Petrov, A.; Pirozhkova, I.; Carnac, G.; Laoudj, D.; Lipinski, M.; Vassetzky, Y. S. : Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc. Nat. Acad. Sci. 103: 6982-6987, 2006. | ||||||
| Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tome FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 1996 Dec;5(12):2019-22. | ||||||
| Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 1995 Jun;10(2):243-5. Erratum in: Nat Genet 1995 Sep 11(1):104. | ||||||
| Pierson, T. M., Adams, D., Bonn, F., Martinelli, P., Cherukuri, P. F., Teer, J. K., Hansen, N. F., Cruz, P., Mullikin, J. C., Blakesley, R. W., Golas, G., Kwan, J., and 9 others. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 7: e1002325, 2011. Note: Electronic Article. | ||||||
| Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH, Wadelius C. The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet. 1994 Dec;8(4):361-4. Erratum in: Nat Genet 1995 Apr;9(4):451. | ||||||
| Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9. | ||||||
| Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996 May;13(1):63-9. | ||||||
| Polke, J. M., Laura, M., Pareyson, D., Taroni, F., Milani, M., Bergamin, G., Gibbons, V. S., Houlden, H., Chamley, S. C., Blake, J., DeVile, C., Sandford, R., Sweeney, M. G., Davis, M. B., Reilly, M. M. Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations. Neurology 77: 168-173, 2011. | ||||||
| Posch, M.G., Posch, M. J., Geier, C., Erdmann, B., Mueller, W., Richter, A., Ruppert, V., Pankuweit, S., Maisch, B., Perrot, A., Buttgereit, J., Dietz, R., Haverkamp, W., Ozcelik, C. A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy. Mol. Genet. Metab. 95: 74-80, 2008. | ||||||
| Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15. | ||||||
| Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 1995 Sep 20;29(2):409-12. | ||||||
| Priori, S. G.; Napolitano, C.; Tiso, N.; Memmi, M.; Vignati, G.; Bloise, R.; Sorrentino, V.; Danieli, G. A.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103: 196-200, 2001. | ||||||
| Priori, S. G.; Pandit, S. V.; Rivolta, I.; Berenfeld, O.; Ronchetti, E.; Dhamoon, A.; Napolitano, C.; Anumonwo, J.; Raffaele di Barletta, M.; Gudapakkam, S.; Bosi, G.; Stramba-Badiale, M.; Jalife, J. : A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96: 800-807, 2005. | ||||||
| Probst, S., Oechslin, E., Schuler, P., Greutmann, M., Boye, P., Knirsch, W., Berger, F., Thierfelder, L., Jenni, R., Klaassen, S. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ. Cardiovasc. Genet. 4: 367-374, 2011. | ||||||
| Ptacek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992 May;8(5):891-7. | ||||||
| Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021-7. | ||||||
| Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar;33(3):300-7. | ||||||
| Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3. | ||||||
| Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb;42(2):431-3. | ||||||
| Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991 Oct;49(4):851-4. | ||||||
| Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. Epub 2009 Nov 24. | ||||||
| Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. Epub 2003 Mar 10. | ||||||
| Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269-76. | ||||||
| Punetha J, Kesari A, Hoffman EP, Gos M, Kami?ska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, J?drzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2016 Jun 27. doi: 10.1002/mus.25232. | ||||||
| Purevjav, E., Arimura, T., Augustin, S., Huby, A.-C., Takagi, K., Nunoda, S., Kearney, D. L., Taylor, M. D., Terasaki, F., Bos, J. M., Ommen, S. R., Shibata, H., and 14 others. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum. Molec. Genet. 21: 2039-2053, 2012. | ||||||
| Purevjav, E., Arimura, T., Augustin, S., Huby, A.-C., Takagi, K., Nunoda, S., Kearney, D. L., Taylor, M. D., Terasaki, F., Bos, J. M., Ommen, S. R., Shibata, H., and 14 others. Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations. Hum. Molec. Genet. 21: 2039-2053, 2012. | ||||||
| Quane KA, Healy JM, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet. 1993 Sep;5(1):51-5 | ||||||
| Quane KA, Keating KE, Manning BM, Healy JM, Monsieurs K, Heffron JJ, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, et al. Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet. 1994 Mar;3(3):471-6. | ||||||
| Quélin C., Loget P., Rozel C., D’Hervé D., Fradin M., Demurger F., et al. Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation. Eur J Med Genet. 2017 Jul;60(7):395-398. | ||||||
| Quijano-Roy S, Mbieleu B, Bonnemann CG et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann. Neurol 2008;64:177–86. | ||||||
| Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Cama²±o P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. | ||||||
| Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., Hirano, M. A mutation in Para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am. J. Hum. Genet. 78: 345-349, 2006. | ||||||
| Quiram, P. A.; Ohno, K.; Milone, M.; Patterson, M. C.; Pruitt, N. J.; Brengman, J. M.; Sine, S. M.; Engel, A. G. : Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. J. Clin. Invest. 104: 1403-1410, 1999. | ||||||
| Raducu M, Baets J, Fano O, Van Coster R, Cruces J. Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. Eur J Hum Genet. 2012 Sep;20(9):945-52. doi: 10.1038/ejhg.2012.40. Epub 2012 Mar 14. | ||||||
| Radziwonik W, Elert-Dobkowska E, Tomczuk F, Wozniak A, Sobanska A, Stepniak I, Koziorowski D, Zaremba J, Su?ek A. C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA). Neurol Neurochir Pol. 2022;56(3):276-280. doi: 10.5603/PJNNS.a2022.0039. Epub 2022 Jun 6. PMID: 35661131 | ||||||
| Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L , Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Am J Hum Genet. 2000 Apr;66(4):1407-12. Epub 2000 Mar 16. | ||||||
| Raffaele di Barletta, M.; Ricci, E.; Galluzzi, G.; Tonali, P.; Mora, M.; Morandi, L.; Romorini, A.; Voit, T.; Orstavik, K. H.; Merlini, L.; Trevisan, C.; Biancalana, V.; Housmanowa-Petrusewicz, I.; Bione, S.; Ricotti, R.; Schwartz, K.; Bonne, G.; Toniolo, D. : Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am. J. Hum. Genet. 66: 1407-1412, 2000. | ||||||
| Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. Epub 2008 Feb 28. | ||||||
| Rainier, S.; Chai, J.-H.; Tokarz, D.; Nicholls, R. D.; Fink, J. K. : NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 73: 967-971, 2003. | ||||||
| Rajadhyaksha, A. M., Elemento, O., Puffenberger, E. G., Schierberl, K. C., Xiang, J. Z., Putorti, M. L., Berciano, J., Poulin, C., Brais, B., Michaelides, M., Weleber, R. G., Higgins, J. J. Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am. J. Hum. Genet. 87: 643-654, 2010. | ||||||
| Ramachandran N1, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol. 2013 Mar;125(3):439-57. doi: 10.1007/s00401-012-1073-6. Epub 2013 Jan 12. | ||||||
| Ramirez-Martinez, A., Zhang, Y., van den Boogaard, M. J., McAnally, J. R., Rodriguez-Caycedo, C., Chai, A. C., Chemello, F., Massink, M. P. G., Cuppen, I., Elferink, M. G., van Es, R. J. J., Janssen, N. G., Walraven-van Oijen, L. P. A. M., Liu, N., Bassel-Duby, R., van Jaarsveld, R. H., Olson, E. N. Impaired activity of the fusogenic micropeptide Myomixer caused myopathy resembling Carey-Fineman-Ziter syndrome. J. Clin. Invest. 132: e159002, 2022. [PubMed: 35642635, | ||||||
| Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Hum Mol Genet 1994;3:959-962. | ||||||
| Rampazzo A, Nava A, Miorin M, Fonderico P, Pope B, Tiso N, Livolsi B, Zimbello R, Thiene G, Danieli GA. ARVD4, a new locus for arrhythmogenic right ventricular cardiomyopathy, maps to chromosome 2 long arm. Genomics 1997;45:259-263. | ||||||
| Rampazzo, A.; Nava, A.; Malacrida, S.; Beffagna, G.; Bauce, B.; Rossi, V.; Zimbello, R.; Simionati, B.; Basso, C.; Thiene, G.; Towbin, J. A.; Danieli, G. A. : Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 71: 1200-1206, 2002. | ||||||
| Ramser, J., Ahearn, M. E., Lenski, C., Yariz, K. O., Hellebrand, H., von Rhein, M., Clark, R. D., Schmutzler, R. K., Lichtner, P., Hoffman, E. P., Meindl, A., Baumbach-Reardon, L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am. J. Hum. Genet. 82: 188-193, 2008 | ||||||
| Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998 Jun;19(2):196-8. | ||||||
| Ranum LP, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet. 1994 Nov;8(3):280-4. | ||||||
| Rattay TW SL, Wilhelm C, Synofzik M. Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion. Amyotroph Lateral Scler Frontotemporal Degener. 2013;Jul 25. | ||||||
| Ravenscroft G, Zaharieva I, Bortolotti CA, Lambrughi M, Pignataro M, Borsari M, Sewry CA, Phadke R, Haliloglu G, Ong R, Goullée H, Whyte T; UK10K Consortium, Manzur A, Talim B, Kaya U, Osborn DP, Forrest A, Laing NG, Muntoni F. Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet. 2018 Sep 12. doi: 10.1093/hmg/ddy320. | ||||||
| Ravenscroft, G., Di Donato, N., Hahn, G., Davis, M. R., Craven, P. D., Poke, G., Neas, K. R., Neuhann, T. M., Dobyns, W. B., Laing, N. G. Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. Neuromusc. Disord. 26: 744-748, 2016. | ||||||
| Ravenscroft, G., Miyatake, S., Lehtokari, V.-L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., and 43 others. Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am. J. Hum. Genet. 93: 6-18, 2013. | ||||||
| Ravenscroft, G., Nolent, F., Rajagopalan, S., Meireles, A. M., Paavola, K. J., Gaillard, D., Alanio, E., Buckland, M., Arbuckle, S., Krivanek, M., Maluenda, J., Pannell, S., and 9 others. Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita. Am. J. Hum. Genet. 96: 955-961, 2015. | ||||||
| Rebelo AP, Saade D, Pereira CV, Farooq A, Huff TC, Abreu L, Moraes CT, Mnatsakanova D, Mathews K, Yang H, Schon EA, Zuchner S, Shy ME. SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency. Brain. 2018 Mar 1;141(3):662-672. doi: 10.1093/brain/awx369. | ||||||
| Rebelo, A. P., Abrams, A. J., Cottenie, E., Horga, A., Gonzalez, M., Bis, D. M., Sanchez-Mejias, A., Pinto, M., Buglo, E., Markel, K., Prince, J., Laura, M., and 10 others. Cryptic amyloidogenic elements in the 3-prime UTRs of neurofilament genes trigger axonal neuropathy. Am. J. Hum. Genet. 98: 597-614, 2016. | ||||||
| Rebelo, A. P., Cortese, A., Abraham, A., Eshed-Eisenbach, Y., Shner, G., Vainshtein, A., Buglo, E., Camarena, V., Gaidosh, G., Shiekhattar, R., Abreu, L., Courel, S., and 9 others. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement. Brain 144: 1197-1213, 2021. Note: Erratum: Brain 144: e64, 2021. [PubMed: 33889941, | ||||||
| Rebelo, A. P., Eidhof, I., Cintra, V. P., Guillot-Noel, L., Pereira, C. V., Timmann, D., Traschutz, A., Schols, L., Coarelli, G., Durr, A., Anheim, M., Tranchant, C., and 9 others. Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain 144: 1467-1481, 2021.[PubMed: 33889951] | ||||||
| Reed, G. J., Boczek, N. J., Etheridge, S. P., Ackerman, M. J. CALM3 mutation associated with long QT syndrome. Heart Rhythm 12: 419-422, 2015. | ||||||
| Régal L, Shen XM, Selcen D, Verhille C, Meulemans S, Creemers JW, Engel AG. PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. Neurology. 2014 Apr 8;82(14):1254-60. doi: 10.1212/WNL.0000000000000295. Epub 2014 Mar 7. | ||||||
| Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC. A locus for autosomal dominant pure hereditary spastic paraplegia maps to chromosome 19q13. Am J Hum Genet. 2000 Feb;66(2):728-32. | ||||||
| Reid E, Dearlove AM, Rhodes M, Rubinsztein DC. A new locus for autosomal dominant pure hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. Am J Hum Genet. 1999 Sep;65(3):757-63. | ||||||
| Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet. 2009 Aug;85(2):281-9. Epub 2009 Jul 30. | ||||||
| Renwick JH, Bundey SE, Ferguson-Smith MA, Izatt MM. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet. 1971 Dec;8(4):407-16. | ||||||
| Reyes A, Melchionda L, Nasca A, Carrara F, Lamantea E, Zanolini A, Lamperti C, Fang M, Zhang J, Ronchi D, Bonato S, Fagiolari G, Moggio M, Ghezzi D, Zeviani M. RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. Am J Hum Genet. 2015 Jul 2;97(1):186-93. doi: 10.1016/j.ajhg.2015.05.013. Epub 2015 Jun 18. | ||||||
| Richard I, Brenguier L, Dincer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet. 1997 May;60(5):1128-38. | ||||||
| Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C, et al. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell. 1995 Apr 7;81(1):27-40. | ||||||
| Riley, L. G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S. C., Thorburn, D., Ryan, M. T., Giege, R., Bahlo, M., Christodoulou, J. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia-MLASA syndrome. Am. J. Hum. Genet. 87: 52-59, 2010. | ||||||
| Rinaldi C, Grunseich C, Sevrioukova IF, et al. Cowchock syndrome is associated with a mutation in apoptosis-inducing factor. Am. J. Hum. Genet. 2012;91:1095–1102. | ||||||
| Rinaldi, C., Schmidt, T., Situ, A. J., Johnson, J. O., Lee, P. R., Chen, K., Bott, L. C., Fado, R., Harmison, G. H., Parodi, S., Grunseich, C., Renvoise, B., and 12 others. Mutation in CPT1C associated with pure autosomal dominant spastic paraplegia. JAMA Neurol. 72: 561-570, 2015. Note: Erratum: JAMA Neurol. 72: 608 only, 2015. | ||||||
| Riviere, J.-B., Ramalingam, S., Lavastre, V., Shekarabi, M., Holbert, S., Lafontaine, J., Srour, M., Merner, N., Rochefort, D., Hince, P., Gaudet, R., Mes-Masson, A.-M., and 11 others. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am. J. Hum. Genet. 89: 219-230, 2011. | ||||||
| Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. | ||||||
| Roa BB, Dyck PJ, Marks HG, Chance PF. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet. 1993 Nov;5(3):269-73. | ||||||
| Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tome FM, Romero NB, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994 Aug 26;78(4):625-33. | ||||||
| Robinson, R. L., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J. L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., van Broeckhoven, C., Deufel, T., Hopkins, P. M., Lunardi, J., Mueller, C. R. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum. Molec. Genet. 6: 953-961, 1997. | ||||||
| Robinson, R. L.; Brooks, C.; Brown, S. L.; Ellis, F. R.; Halsall, P. J.; Quinnell, R. J.; Shaw, M.-A.; Hopkins, P. M. : RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes. Hum. Mutat. 20: 88-97, 2002. | ||||||
| Rodrigues NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet. 1995 Apr;4(4):631-4. | ||||||
| Rodriguez G, Ueyama T, Ogata T, Czernuszewicz G, Tan Y, Dorn GW 2nd, Bogaev R, Amano K, Oh H, Matsubara H, Willerson JT, Marian AJ. Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet. 2011 Aug 1;4(4):349-58. | ||||||
| Rogers T, Chandler D, Angelicheva D, Thomas PK, Youl B, Tournev I, Gergelcheva V, Kalaydjieva L. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000 Sep;67(3):664-71. Epub 2000 Jul 27. | ||||||
| Rojas CV, Wang JZ, Schwartz LS, Hoffman EP, Powell BR, Brown RH Jr. A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 1991 Dec 5;354(6352):387-9. | ||||||
| Romeo G, Roncuzzi L, Sangiorgi S, Giacanelli M, Liguori M, Tessarolo D, Rocchi M. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. Hum Genet. 1988 Sep;80(1):59-62. | ||||||
| Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003 Nov;126(Pt 11):2341-9. Epub 2003 Aug 22. | ||||||
| Romero NB, Xie T, Malfatti E, Schaeffer U, Böhm J, Wu B, Xu F, Boucebci S, Mathis S, Neau JP, Monnier N, Fardeau M, Laporte J. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. J Neurol Neurosurg Psychiatry. 2014; 85(10):1149-52. doi: 10.1136/jnnp-2013-306754. | ||||||
| Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferro, M. T., Ranieri, M., and 10 others. Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am. J. Hum. Genet. 92: 293-300, 2013. | ||||||
| Ronchi, D., Garone, C., Bordoni, A., Gutierrez Rios, P., Calvo, S. E., Ripolone, M., Ranieri, M., Rizzuti, M., Villa, L., Magri, F., Corti, S., Bresolin, N., Mootha, V. K., Moggio, M., DiMauro, S., Comi, G. P., Sciacco, M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 135: 3404-3415, 2012. | ||||||
| Rook, M. B.; Alshinawi, C. B.; Groenewegen, W. A.; van Gelder, I. C.; van Ginneken, A. C. G.; Jongsma, H. J.; Mannens, M. M. A. M.; Wilde, A. A. M. : Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res. 44: 507-517, 1999. | ||||||
| Roos A, van der Ven PFM, Alrohaif H, Kölbel H, Heil L, Della Marina A, Weis J, Aßent M, Beck-Wödl S, Barresi R, Töpf A, O'Connor K, Sickmann A, Kohlschmidt N, El Gizouli M, Meyer N, Daya N, Grande V, Bois K, Kaiser FJ, Vorgerd M, Schröder C, Schara-Schmidt U, Gangfuss A, Evangelista T, Röbisch L, Hentschel A, Grüneboom A, Fuerst DO, Kuechler A, Tzschach A, Depienne C, Lochmüller H. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. Brain. 2023 Oct 3;146(10):4200-4216. doi: 10.1093/brain/awad152. PMID: 37163662; PMCID: PMC10545528. | ||||||
| Rosa R, George C, Fardeau M, Calvin MC, Rapin M, Rosa J. A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia. Blood. 1982 Jul;60(1):84-91. | ||||||
| Roscioli, T., Kamsteeg, E.-J., Buysse, K., Maystadt, I., van Reeuwijk, J., van den Elzen, C., van Beusekom, E., Riemersma, M., Pfundt, R., Vissers, L. E. L. M., Schraders, M., Altunoglu, U., and 23 others. Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. Nature Genet. 44: 581-585, 2012. | ||||||
| Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, Donaldson D, Goto J, O'Regan JP, Deng HX, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993 Mar 4;362(6415):59-62. Erratum in: Nature. 1993 Jul 22;364(6435):362. | ||||||
| Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10. | ||||||
| Rotthier, A., Auer-Grumbach, M., Janssens, K., Baets, J., Penno, A., Almeida-Souza, L., Van Hoof, K., Jacobs, A., De Vriendt, E., Schlotter-Weigel, B., Loscher, W., Vondracek, P., Seeman, P., De Jonghe, P., Van Dijck, P., Jordanova, A., Hornemann, T., Timmerman, V. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Am. J. Hum. Genet. 87: 513-522, 2010. | ||||||
| Roux-Buisson, N., Cacheux, M., Fourest-Lieuvin, A., Fauconnier, J., Brocard, J., Denjoy, I., Durand, P., Guicheney, P., Kyndt, F., Leenhardt, A., Le Marec, H., Lucet, V., and 10 others. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum. Molec. Genet. 21: 2759-2767, 2012. | ||||||
| Rudnik-SchoÅNneborn S, Senderek J, Jen JC, et al. Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations. Neurology 2013; 80: 438–436 | ||||||
| Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. PMID: 32451610; PMCID: PMC7360652. | ||||||
| Ruggieri, A., Brancati, F., Zanotti, S., Maggi, L., Pasanisi, M. B., Saredi, S., Terracciano, C., Antozzi, C., D'Alpice, M. R., Sangiuolo, F., Novelli, G., Marshall, C. R., Scherer, S. W., Morandi, L., Federici, L., Massa, R., Mora, M., Minassian, B. A. Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy. Acta Neuropath. Commun. 3: 44, 2015. Note: Electronic Article. | ||||||
| Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Pt²°cek LJ. Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis. Cell. 2010 Jan 8;140(1):88-98. | ||||||
| Ryan MM, Taylor P, Donald JA, Ouvrier RA, Morgan G, Danta G, Buckley MF, North KN. A novel syndrome of episodic muscle weakness maps to xp22.3. Am J Hum Genet. 1999 Oct;65(4):1104-13. | ||||||
| Rydning, S. L., Dudesek, A., Rimmele, F., Funke, C., Kruger, S., Biskup, S., Vigeland, M. D., Hjorthaug, H. S., Sejersted, Y., Tallaksen, C., Selmer, K. K., Kamm, C. A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia. Europ. J. Neurol. 25: 943-e71, 2018. [PubMed: 29528531, | ||||||
| Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-344. | ||||||
| Sacconi S, Lemmers RJ, Balog J, van der Vliet PJ, Lahaut P, van Nieuwenhuizen MP, Straasheijm KR, Debipersad RD, Vos-Versteeg M, Salviati L, Casarin A, Pegoraro E, Tawil R, Bakker E, Tapscott SJ, Desnuelle C, van der Maarel SM. Modifier of Disease Severity in Families Affected by FSHD1. Am J Hum Genet 2013;93:744–51. | ||||||
| Sacconi, S., Camano, P., de Greef, J. C., Lemmers, R. J. L. F., Salviati, L., Boileau, P., Lopez de Munain Arregui, A., van der Maarel, S. M., Desnuelle, C. Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity. J. Med. Genet. 49: 41-46, 2012. | ||||||
| Safka Brozkova, D., Deconinck, T., Griffin, L. B., Ferbert, A., Haberlova, J., Mazanec, R., Lassuthova, P., Roth, C., Pilunthanakul, T., Rautenstrauss, B., Janecke, A. R., Zavadakova, P., and 9 others. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain 138: 2161-2172, 2015. | ||||||
| Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H. Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. J Neurol. 2018 Dec 4. doi: 10.1007/s00415-018-9137-8. | ||||||
| Salpietro V., Lin W., Delle Vedove A., Storbeck M., Liu Y., Efthymiou S., et al. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome. Ann Neurol. 2017 Apr;81(4):597-603. doi: 10.1002/ana.24905. Epub 2017 Mar 29. | ||||||
| Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clin Genet. 2021 Jul;100(1):84-89. doi: 10.1111/cge.13959. Epub 2021 Mar 29. PMID: 33733462 | ||||||
| Sambuughin, N., Yau, K. S., Olive, M., Duff, R. M., Bayarsaikhan, M., Lu, S., Gonzalez-Mera, L., Sivadorai, P., Nowak, K. J., Ravenscroft, G., Mastaglia, F. L., North, K. N., and 9 others. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am. J. Hum. Genet. 87: 842-847, 2010. | ||||||
| Samilchuk, E.; D'Souza, B.; Bastaki, L. : Deletion analysis of the SMN and NAIP genes in Kuwaiti patients with spinal muscular atrophy. Hum. Genet. 98: 524-527, 1996. | ||||||
| Sampedro Castaneda M, Zanoteli E, Scalco RS, Scaramuzzi V, Marques Caldas V, Conti Reed U, da Silva AMS, O'Callaghan B, Phadke R, Bugiardini E, Sud R, McCall S, Hanna MG, Poulsen H, Mannikko R, Matthews E. A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms. Brain. 2018 Nov 12. doi: 10.1093/brain/awy283. PMID:30423015 | ||||||
| Sanchez-Caballero, L., Ruzzenente, B., Bianchi, L., Assouline, Z., Barcia, G., Metodiev, M. D., Rio, M., Funalot, B., van den Brand, M. A. M., Guerrero-Castillo, S., Molenaar, J. P., Koolen, D., Brandt, U., Rodenburg, R. J., Nijtmans, L. G., Rotig, A. Mutations in complex I assembly factor TMEM126B result in muscle weakness and isolated complex I deficiency. Am. J. Hum. Genet. 99: 208-216, 2016. PubMed: 27374773, | ||||||
| Sandaradura SA, Bournazos A, Mallawaarachchi A, Cummings BB, Waddell LB, Jones KJ, Troedson C, Sudarsanam A, Nash BM, Peters GB, Algar EM, MacArthur DG, North KN, Brammah S, Charlton A, Laing NG, Wilson MJ, Davis MR, Cooper ST. Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant. Hum Mutat. 2018 Mar;39(3):383-388. doi: 10.1002/humu.23385. Epub 2018 Jan 13. PMID: 29266598; PMCID: PMC5805634. | ||||||
| Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. PMID: 33764426; PMCID: PMC8041041. | ||||||
| Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet. 1996 Nov;14(3):277-84. | ||||||
| Sapp, P. C.; Hosler, B. A.; McKenna-Yasek, D.; Chin, W.; Gann, A.; Genise, H.; Gorenstein, J.; Huang, M.; Sailer, W.; Scheffler, M.; Valesky, M.; Haines, J. L.; Pericak-Vance, M.; Siddique, T.; Horvitz, H. R.; Brown, R. H., Jr. : Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 73: 397-403, 2003. | ||||||
| Saraiva, M. J. M. : Transthyretin mutations in health and disease. Hum. Mutat. 5: 191-196, 1995. | ||||||
| Sarparanta, J., Jonson, P. H., Golzio, C., Sandell, S., Luque, H., Screen, M., McDonald, K., Stajich, J. M., Mahjneh, I., Vihola, A., Raheem, O., Penttila, S., and 9 others. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nature Genet. 44: 450-455, 2012. | ||||||
| Sasse-Klaassen, S., Gerull, B., Oechslin, E., Jenni, R., Thierfelder, L. Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. Am. J. Med. Genet. 119A: 162-167, 2003. | ||||||
| Sato, I., Wu, S., Ibarra, M. C. A., Hayashi, Y. K., Fujita, H., Tojo, M., Oh, S. J., Nonaka, I., Noguchi, S., Nishino, I. Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 70: 114-122, 2008. | ||||||
| Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T., Takahashi, M., Matsuura, T., Flanigan, K. M., Iwasaki, S., Ishino, F., Saito, Y., and 9 others Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85: 544-557, 2009. | ||||||
| Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A. Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem Biophys Res Commun. 1999 Aug | ||||||
| Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet. 1994 Mar;6(3):257-62. | ||||||
| Saunders CJ1, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 ? recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar;36(3):301-6. doi: 10.1002/humu.22743. | ||||||
| Savarese, M., Palmio, J., Poza, J. J., Weinberg, J., Olive, M., Cobo, A. M., Vihola, A., Jonson, P. H., Sarparanta, J., Garcia-Bragado, F., Urtizberea, J. A., Hackman, P., Udd, B. Actininopathy: a new muscular dystrophy caused by ACTN2 dominant mutations. Ann. Neurol. 85: 899-906, 2019. | ||||||
| Saviranta P, Lindlof M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V, Savontaus ML, de la Chapelle A. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet. 1988 Jan;42(1):84-8. | ||||||
| Savitsky, K.; Bar-Shira, A.; Gilad, S.; Rotman, G.; Ziv, Y.; Vanagaite, L.; Tagle, D. A.; Smith, S.; Uziel, T.; Sfez, S.; Ashkenazi, M.; Pecker, I.; and 18 others : A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 268: 1749-1753, 1995. | ||||||
| Schartner, V., Romero, N. B., Donkervoort, S., Treves, S., Munot, P., Pierson, T. M., Dabaj, I., Malfatti, E., Zaharieva, I. T., Zorzato, F., Abath Neto, O., Brochier, G., and 28 others. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta Neuropath. 133: 517-533, 2017. [PubMed: 28012042, related citations] [Full Text] | ||||||
| Schelhaas, H. J.; Verbeek, D. S.; Van de Warrenburg, B. P. C.; Sinke, R. J. : SCA19 and SCA22: evidence for one locus with a worldwide distribution. (Letter) Brain 127: e6, 2004. Note: Electronic Article. | ||||||
| Schessl, J., Zou, Y., McGrath, M. J., Cowling, B. S., Maiti, B., Chin, S. S., Sewry, C., Battini, R., Hu, Y., Cottle, D. L., Rosenblatt, M., Spruce, L., and 9 others. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J. Clin. Invest. 118: 904-912, 2008. | ||||||
| Schindler, R. F. R., Scotton, C., Zhang, J., Passarelli, C., Ortiz-Bonnin, B., Simrick, S., Schwerte, T., Poon, K.-L., Fang, M., Rinne, S., Froese, A., Nikolaev, V. O., and 22 others. POPDC1-S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking. J. Clin. Invest. 126: 239-253, 2016. | ||||||
| Schmid, R.; Mahler, R. : Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044-2058, 1959. | ||||||
| Schmidt, W. M., Rutledge, S. L., Schule, R., Mayerhofer, B., Zuchner, S., Boltshauser, E., Bittner, R. E. Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. Am. J. Hum. Genet. 97: 855-861, 2015. | ||||||
| Schmitt, J. P.; Kamisago, M.; Asahi, M.; Li, G. H.; Ahmad, F.; Mende, U.; Kranias, E. G.; MacLennan, D. H.; Seidman, J. G.; Seidman, C. E. : Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299: 1410-1413, 2003. | ||||||
| Schob, C., Hempel, M., Safka Brozkova, D., Jiang, H., Kim, S. Y., Batzir, N. A., Orenstein, N., Bierhals, T., Johannsen, J., Uhrova Meszarosova, A., Chae, J. H., Seeman, P., Woidy, M., Fang, F., Kubisch, C., Kindler, S., Denecke, J. Dominant KPNA3 mutations cause infantile-onset hereditary spastic paraplegia. Ann. Neurol. 90: 738-750, 2021. [PubMed: 34564892, | ||||||
| Schober FA, Tang JX, Sergeant K, Moedas MF, Zierz CM, Moore D, Smith C, Lewis D, Guha N, Hopton S, Falkous G, Lam A, Pyle A, Poulton J, Gorman GS, Taylor RW, Freyer C, Wredenberg A. Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease. Hum Mol Genet. 2022 Jun 22;31(12):2049-2062. doi: 10.1093/hmg/ddac002. PMID: 35024855; PMCID: PMC9239748. | ||||||
| Schoggl, J., Siegert, S., Boltshauser, E., Freilinger, M., Schmidt, W. M. A de novo missense NPTX1 variant in an individual with infantile-onset cerebellar ataxia. Mov. Disord. 37: 1774-1776, 2022. [PubMed: 35560436 | ||||||
| Schonberger, J.; Kuhler, L.; Martins, E.; Lindner, T. H.; Silva-Cardoso, J.; Zimmer, M. : A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005.A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1. Hum. Genet. 118: 451-457, 2005. | ||||||
| Schonberger, J.; Wang, L.; Shin, J. T.; Kim, S. D.; Depreux, F. F. S.; Zhu, H.; Zon, L.; Pizard, A.; Kim, J. B.; MacRae, C. A.; Mungall, A. J.; Seidman, J. G.; Seidman, C. E. : Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nature Genet. 37: 418-422, 2005. | ||||||
| Schoser BG, Frosk P, Engel AG, Klutzny U, Lochm²ºller H, Wrogemann K. 2005. Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H. Ann Neurol 57:591-595. | ||||||
| Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al. Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet. 1995 Nov;57(5):1114-22. | ||||||
| Schottmann G, Jungbluth H, Schara U, Knierim E, Morales Gonzalez S, Gill E, Seifert F, Norwood F, Deshpande C, von Au K, Schuelke M, Senderek J. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. Neurology. 2015 Feb 3;84(5):523-31. doi: 10.1212/WNL.0000000000001220. Epub 2015 Jan 7. | ||||||
| Schottmann, G., Seelow, D., Seifert, F., Morales-Gonzalez, S., Gill, E., von Au, K., von Moers, A., Stenzel, W., Schuelke, M. Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. Neurol. Genet. 1: e32, 2015. [PubMed: 27066569, images, related citations] [Full Text] | ||||||
| Schuelke, M.; Wagner, K. R.; Stolz, L. E.; Huber, C.; Riebel, T.; Komen, W.; Braun, T.; Tobin, J. F.; Lee, S.-J. : Myostatin mutation associated with gross muscle hypertrophy in a child. New Eng. J. Med. 350: 2682-2688, 2004. | ||||||
| Schuld J, Orfanos Z, Chevessier F, Eggers B, Heil L, Uszkoreit J, Unger A, Kirfel G, van der Ven PFM, Marcus K, Linke WA, Clemen CS, Schröder R, Fürst DO. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation. Acta Neuropathol Commun. 2020 Sep 4;8(1):154. doi: 10.1186/s40478-020-01001-9. PMID: 32887649 | ||||||
| Schule, R., Bonin, M., Durr, A., Forlani, S., Sperfeld, A. D., Klimpe, S., Mueller, J. C., Seibel, A., van de Warrenburg, B. P., Bauer, P., Schols, L. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 72: 1893-1898, 2009. | ||||||
| Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet. 1997 Nov;17(3):267-8. | ||||||
| Schuurs-Hoeijmakers, J. H. M., Geraghty, M. T., Kamsteeg, E.-J., Ben-Salem, S., de Bot, S. T., Nijhof, B., van de Vondervoort, I. I. G. M., van der Graaf, M., Nobau, A. C., Otte-Holler, I., Vermeer, S., Smith, A. C., and 29 others. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1073-1081, 2012 | ||||||
| Schuurs-Hoeijmakers, J. H. M., Vulto-van Silfhout, A. T., Vissers, L. E. L. M., van de Vondervoort, I. I. G. M., van Bon, B. W. M., de Ligt, J., Gilissen, C., Hehir-Kwa, J. Y., Neveling, K., del Rosario, M., Hira, G., Reitano, S., and 19 others. Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J. Med. Genet. 50: 802-811, 2013. | ||||||
| Scrable HJ, Johnson DK, Rinchik EM, Cavenee WK. Rhabdomyosarcoma-associated locus and MYOD1 are syntenic but separate loci on the short arm of human chromosome 11. Proc Natl Acad Sci U S A. 1990 Mar;87(6):2182-6. | ||||||
| Sedghi M, Moslemi AR, Cabrera-Serrano M, Ansari B, Ghasemi M, Baktashian M, Fattahpour A, Tajsharghi H. Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP. Brain Commun. 2019 Sep 3;1(1):fcz011. doi: 10.1093/braincomms/fcz011. PMID: 32954258; PMCID: PMC7425404. | ||||||
| Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. | ||||||
| Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. | ||||||
| Selcen D, Milone M, Shen XM, Harper CM, Stans AA, Wieben ED, Engel AG. Dok-7 myasthenia: phenotypic and molecular genetic studies in 16 patients. Ann Neurol. 2008 Jul;64(1):71-87. | ||||||
| Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, Engel AG. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol. 2008 Dec 9. | ||||||
| Selcen, D., Juel, V. C., Hobson-Webb, L. D., Smith, E. C., Stickler, D. E., Bite, A. V., Ohno, K., Engel, A. G. Myasthenic syndrome caused by plectinopathy. Neurology 76: 327-336, 2011. | ||||||
| Selcen, D.; Engel, A. G. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann. Neurol. 54: 804-810, 2003. | ||||||
| Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Sch²∂neborn S, B²ºttner R, Buchheim E, Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet. 2004 Feb 1;13(3):363. | ||||||
| Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K. Mutations in SIL1 cause Marinesco-Sjogren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. Epub 2005 Nov 13. | ||||||
| Senderek, J., Muller, J. S., Dusl, M., Strom, T. M., Guergueltcheva, V., Diepolder, I., Laval, S. H., Maxwell, S., Cossins, J., Krause, S., Muelas, N., Vilchez, J. J., and 27 others. Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88: 162-172, 2011. | ||||||
| Seong, E., Insolera, R., Dulovic, M., Kamsteeg, E.-J., Trinh, J., Bruggermann, N., Sandford, E., Li, S., Ozel, A. B., Li, J. Z., Jewett, T., Kievit, A. J. A., Munchau, A., Shakkottai, V., Klein, C., Collins, C. A., Lohmann, K., van de Warrenburg, B. P., Burmeister, M. Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects. Ann. Neurol. 83: 1075-1088, 2018. | ||||||
| Seri, M.; Cusano, R.; Forabosco, P.; Cinti, R.; Caroli, F.; Picco, P.; Bini, R.; Morra, V. B.; De Michele, G.; Lerone, M.; Silengo, M.; Pela, I.; Borrone, C.; Romeo, G.; Devoto, M. : Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am. J. Hum. Genet. 64: 586-593, 1999. | ||||||
| Serrano-Munuera, C., Corral-Juan, M., Stevanin, G et al . 2013. New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32. JAMA Neurol. 70: 764-771, 2013. | ||||||
| Servian-Morilla, E., Takeuchi, H., Lee, T. V., Clarimon, J., Mavillard, F., Area-Gomez, E., Rivas, E., Nieto-Gonzalez, J. L., Rivero, M. C., Cabrera-Serrano, M., Gomez-Sanchez, L., Martinez-Lopez, J. A., and 12 others. A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Molec. Med. 8: 1289-1309, 2016. | ||||||
| Servidei S, et al. (1999). A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13. Neurology 53:830-837. | ||||||
| Severini GM, Krajinovic M, Pinamonti B, Sinagra G, Fioretti P, Brunazzi MC, Falaschi A, Camerini F, Giacca M, Mestroni L. A new locus for anhythmogenic right ventricular dysplasia on the long arm of chromosome14. Genomics 1996;31:193-200. | ||||||
| Sevilla, T., Lupo, V., Martinez-Rubio, D., Sancho, P., Sivera, R., Chumillas, M. J., Garcia-Romero, M., Pascual-Pascual, S. I., Muelas, N., Dopazo, J., Vilchez, J. J., Palau, F., Espinos, C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 139: 62-72, 2016. | ||||||
| Sevilla, T., Martinez-Rubio, D., Marquez, C., Paradas, C., Colomer, J., Jaijo, T., Millan, J. M., Palau, F., Espinos, C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 83: 565-570, 2013. | ||||||
| Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. 2021 May 8:awab185. doi: 10.1093/brain/awab185. Online ahead of print. PMID: 33964137 | ||||||
| Shaibani A, Khan S, Shinawi M. Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia. Neurol Genet. 2021 Jul 16;7(4):e612. doi: 10.1212/NXG.0000000000000612. PMID: 34291158; PMCID: PMC8290902. | ||||||
| Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord. 2008 Dec;18(12):959-61. Epub 2008 Oct 25. | ||||||
| Shamseldin H.E., Smith L.L., Kentab A., et al. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet 2015; 135:21–30. | ||||||
| Shamseldin HE, Bennett AH, Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-51. doi: 10.1007/s00439-015-1632-8. | ||||||
| Sharp D, Blinderman L, Combs KA, Kienzle B, Ricci B, Wager-Smith K, Gil CM, Turck CW, Bouma ME, Rader DJ and et al. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia. Nature 1993;365:65-9. | ||||||
| Shashi, V., Geist, J., Lee, Y., Yoo, Y., Shin, U., Schoch, K., Sullivan, J., Stong, N., Smith, E., Jasien, J., Kranz, P., Undiagnosed Diseases Network, Lee, Y., Shin, Y. B., Wright, N. T., Choi, M., Kontrogianni-Konstantopoulos, A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum. Mutat. 40: 1115-1126, 2019. [PubMed: 31264822, images, related citations] [Full Text] | ||||||
| Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M and Rouleau GA. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II. J Clin Invest 2008;118:2496-505. | ||||||
| Shen J, Bao Y, Chen YT. A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. Hum Mutat. 1997;9(1):37-40. | ||||||
| Shen X.M., Scola R.H., Lorenzoni P.J., Kay C.S., Werneck L.C., Brengman J., et al. Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome. Ann Clin Transl Neurol. 2017 Jan 16;4(2):130-138. doi: 10.1002/acn3.387. eCollection 2017. | ||||||
| Shen XM, Di L, Shen S, Zhao Y, Neumeyer AM, Selcen D, Sine SM, Engel AG. A novel fast-channel myasthenia caused by mutation in ? subunit of AChR reveals subunit-specific contribution of the intracellular M1-M2 linker to channel gating. Exp Neurol. 2020 Sep;331:113375. doi: 10.1016/j.expneurol.2020.113375. Epub 2020 Jun 3. PMID: 32504635; PMCID: PMC7483818. | ||||||
| Shen, X.-M., Selcen, D., Brengman, J., Engel, A. G. Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability. Neurology 83: 2247-2255, 2014. | ||||||
| Shen, X.-M.; Ohno, K.; Fukudome, T.; Tsujino, A.; Brengman, J. M.; De Vivo, D. C.; Packer, R. J.; Engel, A. G. : Congenital myasthenic syndrome caused by low-expressor fast-channel AChR-delta subunit mutation. Neurology 59: 1881-1888, 2002. | ||||||
| Shi, C.-H., Schisler, J. C., Rubel, C. E., Tan, S., Song, B., McDonough, H., Xu, L., Portbury, A. L., Mao, C.-Y., True, C., Wang, R.-H., Wang, Q.-Z., Sun, S.-L., Seminara, S. B., Patterson, C., Xu, Y.-M. Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. Hum. Molec. Genet. 23: 1013-1024, 2014. | ||||||
| Shi, H.-Y., Xie, M.-S., Guo, Y.-H., Yang, C.-X., Gu, J.-N., Qiao, Q., Di, R.-M., Qiu, X.-B., Xu, Y.-J., Yang, Y.-Q. VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy. Europ. J. Med. Genet. 66: 104705, 2023. [PubMed: 36657711 | ||||||
| Shimazaki, H., Takiyama, Y., Ishiura, H., Sakai, C., Matsushima, Y., Hatakeyama, H., Honda, J., Sakoe, K., Naoi, T., Namekawa, M., Fukuda, Y., Takahashi, Y., Goto, J., Tsuji, S., Goto, Y., Nakano, I., Japan Spastic Paraplegia Research Consortium (JASPAC). A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J. Med. Genet. 49: 777-784, 2012 | ||||||
| Shimizu A, Zankov DP, Sato A, et al. Identification of transmembrane protein 168 mutation in familial Brugada syndrome. FASEB J. 2020;34(5):6399-6417. doi:10.1096/fj.201902991R | ||||||
| Shinwari, J. M. A., Khan, A., Awad, S., Shinwari, Z., Alaiya, A., Alanazi, M., Tahir, A., Poizat, C., Al Tassan, N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am. J. Hum. Genet. 96: 147-152, 2015. | ||||||
| Shore EM, Xu M, Feldman GJ, Fenstermacher DA; FOP International Research Consortium; Brown MA, Kaplan FS. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet. 2006 May;38(5):525-7. Epub 2006 Apr | ||||||
| Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet. 2004 Jul;75(1):92-6. Epub 2004 May 14. | ||||||
| Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, Sapp P, Hung WY, Bebout J, McKenna-Yasek D, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. Neurology. 1996 Jun;46(6):1507-14. Review. | ||||||
| Siddique, T.; Deng, H.-X. : Genetics of amyotrophic lateral sclerosis. Hum. Molec. Genet. 5: 1465-1470, 1996. | ||||||
| Simpson, M. A.; Cross, H.; Proukakis, C.; Pryde, A.; Hershberger, R.; Chatonnet, A.; Patton, M. A.; Crosby, A. H. : Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Hum. Genet. 73: 1147-1156, 2003. | ||||||
| Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG. Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron. 1995 Jul;15(1):229-39. | ||||||
| Siu, B. L.; Niimura, H.; Osborne, J. A.; Fatkin, D.; MacRae, C.; Solomon, S.; Benson, D. W.; Seidman, J. G.; Seidman, C. E. : Familial dilated cardiomyopathy locus maps to chromosome 2q31. Circulation 99: 1022-1026, 1999. | ||||||
| Sloth CK, Denti F, Schmitt N, Bentzen BH, Fagerberg C, Vissing J, Gaist D. Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression. Neurol Genet. 2018 Sep 19;4(5):e267. doi: 10.1212/NXG.0000000000000267. eCollection 2018 Oct. PubMed PMID: 30283817; PubMed Central PMCID: PMC6167177. | ||||||
| Smeitink, J. A. M., Elpeleg, O., Antonicka, H., Diepstra, H., Saada, A., Smits, P., Sasarman, F., Vriend, G., Jacob-Hirsch, J., Shaag, A., Rechavi, G., Welling, B., Horst, J., Rodenburg, R. J., van den Heuvel, B., Shoubridge, E. A. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am. J. Hum. Genet. 79: 869-877, 2006. | ||||||
| Smith B.N., Ticozzi N., Fallini C., Gkazi A.S., Topp S., Kenna K.P., et al. Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. Neuron 84: 324-331, 2014. | ||||||
| Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996 Aug;13(4):450-7. | ||||||
| Smith, B. N., Topp, S. D., Fallini, C., Shibata, H., Chen, H.-J., Troakes, C., King, A., Ticozzi, N., Kenna, K. P., Soragia-Gkazi, A., Miller, J. W., Sato, A., and 44 others. Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis. Sci. Transl. Med. 9: eaad9157, 2017. Note: Electronic Article. | ||||||
| Smith, I. C., Pileggi, C. A., Wang, Y., Kernohan, K., Hartley, T., McMillan, H. J., Sampaio, M. L., Melkus, G., Woulfe, J., Parmar, G., Bourque, P. R., Breiner, A., and 11 others. Novel homozygous variant in COQ7 in siblings with hereditary motor neuropathy. Neurol. Genet. 9: e200048, 2023. [PubMed: 37077559, images, related citations] [Full Text] | ||||||
| Solomon SD, Geisterfer-Lowrance AA, Vosberg HP, Hiller G, Jarcho JA, Morton CC, McBride WO, Mitchell AL, Bale AE, McKenna WJ, et al. A locus for familial hypertrophic cardiomyopathy is closely linked to the cardiac myosin heavy chain genes, CRI-L436, and CRI-L329 on chromosome 14 at q11-q12. Am J Hum Genet. 1990 Sep;47(3):389-94. | ||||||
| Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019 Aug;51(8):1215-1221. | ||||||
| Song GJ, Gupta DP, Rahman MH, et al. Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system. Glia. 2020;68(9):1794-1809. doi:10.1002/glia.23805 | ||||||
| Song, L., DePalma, S. R., Kharlap, M., Zenovich, A. G., Cirino, A., Mitchell, R., McDonough, B., Maron, B. J., Seidman, C. E., Seidman, J. G., Ho, C. Y. Novel locus for an inherited cardiomyopathy maps to chromosome 7. Circulation 113: 2186-2192, 2006. | ||||||
| Soong, B.-W., Huang, Y.-H., Tsai, P.-C., Huang, C.-C., Pan, H.-C., Lu, Y.-C., Chien, H.-J., Liu, T.-T., Chang, M.-H., Lin, K.-P., Tu, P.-H., Kao, L.-S., Lee, Y.-C. : Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 92: 422-430, 2013. | ||||||
| Souza PVS, Bortholin T, Naylor FGM, Pinto WBVR, Oliveira ASB. Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation. Neuromuscul Disord. 2018 Feb;28(2):169-172. doi: 10.1016/j.nmd.2017.11.008. Epub 2017 Nov 24. | ||||||
| Sparrow John C, Kristen J Nowak, Hayley J Durling, Alan H Beggs, Carina Wallgren-Pettersson, Norma Romero, Ikuya Nonaka, Nigel G Laing. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1) Neuromuscul Disord 2003; 13(7-8):519-31. doi: 10.1016/s0960-8966(03)00101-9 | ||||||
| Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jobsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet. 1996 Jul;5(7):1043-6. | ||||||
| Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Stajich JM, Vance JM, Kazantsev A, Lastra AA, Haynes CS, Beckmann JS, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet. 1992 Jun;50(6):1211-7. | ||||||
| Speer, M. C.; Vance, J. M.; Grubber, J. M.; Graham, F. L.; Stajich, J. M.; Viles, K. D.; Rogala, A.; McMichael, R.; Chutkow, J.; Goldsmith, C.; Tim, R. W.; Pericak-Vance, M. A. : Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. Am. J. Hum. Genet. 64: 556-562, 1999. | ||||||
| Spelbrink, J. N.; Li, F.-Y.; Tiranti, V.; Nikali, K.; Yuan, Q.-P.; Tariq, M.; Wanrooij, S.; Garrido, N.; Comi, G.; Morandi, L.; Santoro, L.; Toscano, A.; and 9 others : Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genet. 28: 223-231, 2001. | ||||||
| Spiegel, R., Saada, A., Flannery, P. J., Burte, F., Soiferman, D., Khayat, M., Eisner, V., Vladovski, E., Taylor, R. W., Bindoff, L. A., Shaag, A., Mandel, H., Schuler-Furman, O., Shalev, S. A., Elpeleg, O., Yu-Wai-Man, P. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J. Med. Genet. 53: 127-131, 2016. | ||||||
| Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT. Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 Nov;17(3):338-40. | ||||||
| Splawski, I.; Timothy, K. W.; Decher, N.; Kumar, P.; Sachse, F. B.; Beggs, A. H.; Sanguinetti, M. C.; Keating, M. T. : Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc. Nat. Acad. Sci. 102: 8089-8096, 2005. | ||||||
| Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G and Shaw CE. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008;319:1668-72. | ||||||
| Stabicki M, Theis M, Krastev DB, Samsonov S, Mundwiller E, Junqueira M, Paszkowski-Rogacz M, Teyra J, Heninger AK, Poser I, Prieur F, Truchetto J, Confavreux C, Marelli C, Durr A, Camdessanche JP, Brice A, Shevchenko A, Pisabarro MT, Stevanin G, Buchholz F. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 2010 Jun 29;8(6):e1000408. | ||||||
| Starling, A.; Kok, F.; Passos-Bueno, M. R.; Vainzof, M.; Zatz, M. : A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Europ. J. Hum. Genet. 12: 1033-1040, 2004. Note: Erratum: Europ. J. Hum. Genet. 13: 264 only, 2005. | ||||||
| Steckley, J. L.; Ebers, G. C.; Cader, M. Z.; McLachlan, R. S. : An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57: 1499-1502, 2001. | ||||||
| Steinmuller, R.; Lantigua-Cruz, A.; Garcia-Garcia, R.; Kostrzewa, M.; Steinberger, D.; Muller, U. : Evidence of a third locus in X-linked recessive spastic paraplegia. Hum. Genet. 100: 287-289, 1997. | ||||||
| Stembalska A, Rydzanicz M, Walas W, Gasperowicz P, Pollak A, Pienkowski VM, Biela M, Klaniewska M, Gamrot Z, Gronska E, Ploski R, Smigiel R. Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene. Genes (Basel). 2022 Apr 21;13(5):725. doi: 10.3390/genes13050725. PMID: 35627110; PMCID: PMC9142081. | ||||||
| Stemmerik MG, Borch JS, Dunø M, Krag T, Vissing J. Myopathy can be a key phenotype of membrin (GOSR2) deficiency. Hum Mutat. 2021 Sep;42(9):1101-1106. doi: 10.1002/humu.24247. Epub 2021 Jul 6. PMID: 34167170 | ||||||
| Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kr²ºttgen A, Rudnik-Sch²∂neborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet. 2007 Jul;81(1):158-64. | ||||||
| Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology. 1994 Oct;44(10):1915-20. | ||||||
| Stevanin G, Le Guern E, Ravise N, Chneiweiss H, Durr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus. Am J Hum Genet. 1994 Jan;54(1):11-20. | ||||||
| Stevanin G, Paternotte C, Coutinho P, Klebe S, Elleuch N, Loureiro JL, Denis E, Cruz VT, Durr A, Prud'homme JF, Weissenbach J, Brice A and Hazan J. A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21. Neurology 2007;68:1837-40. | ||||||
| Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A and Brice A. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet 2007;39:366-72. | ||||||
| Stevanin, G.; Bouslam, N.; Thobois, S.; Azzedine, H.; Ravaux, L.; Boland, A.; Schalling, M.; Broussolle, E.; Durr, A.; Brice, A. : Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p. Ann. Neurol. 55: 97-104, 2004. | ||||||
| Stevanin, G.; Hahn, V.; Lohmann, E.; Bouslam, N.; Gouttard, M.; Soumphonphakdy, C.; Welter, M.-L.; Ollagnon-Roman, E.; Lemainque, A.; Ruberg, M.; Brice, A.; Durr, A. : Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch. Neurol. 61: 1242-1248, 2004. | ||||||
| Stevanin, G.; Montagna, G.; Azzedine, H.; Valente, E. M.; Durr, A.; Scarano, V.; Bouslam, N.; Cassandrini, D.; Denora, P. S.; Criscuolo, C.; Belarbi, S.; Orlacchio, A.; and 27 others : Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics 7: 149-156, 2006. | ||||||
| Stevens, E., Carss, K. J., Cirak, S., Foley, A. R., Torelli, S., Willer, T., Tambunan, D. E., Yau, S., Brodd, L., Sewry, C. A., Feng, L., Haliloglu, G., and 14 others. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. Am. J. Hum. Genet. 92: 354-365, 2013. | ||||||
| Stevenson, D. A., Swoboda, K. J., Sanders, R. K., Bamshad, M. A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am. J. Med. Genet. 140A: 2797-2801, 2006. | ||||||
| Stewart, G. S.; Maser, R. S.; Stankovic, T.; Bressan, D. A.; Kaplan, M. I.; Jaspers, N. G. J.; Raams, A.; Byrd, P. J.; Petrini, J. H. J.; Taylor, A. M. R. : The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99: 577-587, 1999. | ||||||
| Stojkovic, T., Vissing, J., Petit, F., Piraud, M., Orngreen, M. C., Andersen, G., Claeys, K. G., Wary, C., Hogrel, J.-Y., Laforet, P. Muscle glycogenosis due to phosphoglucomutase 1 deficiency. New Eng. J. Med. 361: 425-427, 2009. | ||||||
| Stoll M, Hooiling Teoh, James Lee, Stephen Reddel, Ying Zhu, Michael Buckley, Hugo Sampaio, Tony Roscioli, Michelle Farrar, Garth Nicholson. Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia. Neurology Jul 2016, 87 (1) 65-70; DOI: 10.1212/WNL.0000000000002813 | ||||||
| Storbeck M, Horsberg Eriksen B, Unger A, Hölker I, Aukrust I, Martínez-Carrera LA, Linke WA, Ferbert A, Heller R, Vorgerd M, Houge G, Wirth B. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. Eur J Hum Genet. 2017 Sep;25(9):1040-1048. doi: 10.1038/ejhg.2017.98. Epub 2017 Jun 21. PMID:28635954. PMCID:PMC5558181 | ||||||
| Storey, E., Bahlo, M., Fahey, M., Sisson, O., Lueck, C. J., Gardner, R. J. A new dominantly inherited pure cerebellar ataxia, SCA 30. J. Neurol. Neurosurg. Psychiatry 80: 408-411, 2009. | ||||||
| Strauss, A. W.; Powell, C. K.; Hale, D. E.; Anderson, M. M.; Ahuja, A.; Brackett, J. C.; Sims, H. F. : Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. Proc. Nat. Acad. Sci. 92: 10496-10500, 1995. | ||||||
| Strauss, W. L.; Kemper, R. R.; Jayakar, P.; Kong, C. F.; Hersh, L. B.; Hilt, D. C.; Rabin, M. : Human choline acetyltransferase gene maps to region 10q11-q22.2 by in situ hybridization. Genomics 9: 396-398, 1991. | ||||||
| Straussberg, R., Schottmann, G., Sadeh, M., Gill, E., Seifert, F., Halevy, A., Qassem, K., Rendu, J., van der Ven, P. F. M., Stenzel, W., Schuelke, M. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects. Acta Neuropath. 132: 475-478, 2016. | ||||||
| Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel, B. L.; Lipe, H. P.; Scherer, S. S.; Bird, T. D.; Chance, P. F. : Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 60: 22-26, 2003. | ||||||
| Street, V. A.; Goldy, J. D.; Golden, A. S.; Tempel, B. L.; Bird, T. D.; Chance, P. F. : Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am. J. Hum. Genet. 70: 244-250, 2002. | ||||||
| Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, Du Chesne I, Lehmann-Horn F, Deufel T. Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet. 1993 Jul;2(7):857-62. | ||||||
| Sullivan JM, Motley WW, Johnson JO, et al. Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest. 2020;130(3):1506-1512. doi:10.1172/JCI128152 | ||||||
| Sumner, C. J., d'Ydewalle, C., Wooley, J., Fawcett, K. A., Hernandez, D., Gardiner, A. R., Kalmar, B., Baloh, R. H., Gonzalez, M., Zuchner, S., Stanescu, H. C., Kleta, R., and 9 others. A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am. J. Hum. Genet. 93: 976-983, 2013. | ||||||
| Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease. Brain. 2019 Jun 14. pii: awz151. doi: 10.1093/brain/awz151. | ||||||
| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. | ||||||
| Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 2003 Jul;73(1):212-4. | ||||||
| Suomalainen, A.; Majander, A.; Wallin, M.; Setala, K.; Kontula, K.; Leinonen, H.; Salmi, T.; Paetau, A.; Haltia, M.; Valanne, L.; Lonnqvist, J.; Peltonen, L.; Somer, H. : Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 48: 1244-1253, 1997. | ||||||
| Swan, H.; Piippo, K.; Viitasalo, M.; Heikkila, P.; Paavonen, T.; Kainulainen, K.; Kere, J.; Keto, P.; Kontula, K.; Toivonen, L. : Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J. Am. Coll. Cardiol. 34: 2035-2042, 1999. | ||||||
| Sylvius, N.; Tesson, F.; Gayet, C.; Charron, P.; Benaiche, A.; Mangin, L.; Peuchmaurd, M.; Duboscq-Bidot, L.; Feingold, J.; Beckmann, J. S.; Bouchier, C.; Komajda, M. : A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am. J. Hum. Genet. 68: 241-246, 2001. | ||||||
| Syrris, P.; Ward, D.; Evans, A.; Asimaki, A.; Gandjbakhch, E.; Sen-Chowdhry, S.; McKenna, W. J. : Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 79: 978-984, 2006. | ||||||
| Tabara, L. C., Al-Salmi, F., Maroofian, R., Al-Futaisi, A. M., Al-Murshedi, F., Kennedy, J., Day, J. O., Courtin, T., Al-Khayat, A., Galedari, H., Mazaheri, N., Protasoni, M., and 19 others. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain 145: 3095-3107, 2022. Note: Erratum: Brain: 145: e103, 2022.[PubMed: 35718349, | ||||||
| Tahmasebi-Birgani M, Hajjari M, Golchin N, Shalbafan B, Mohammadi-Asl J, Sadeghian F. Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy. Iran J Basic Med Sci. 2019 May;22(5):576-580. doi: 10.22038/ijbms.2019.30754.7414. PMID: 31217940; PMCID: PMC6556509. | ||||||
| Tajsharghi H, Oldfors A, Macleod D P, Swash M. Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy. Neurology 2007a; 68: 962. | ||||||
| Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. Brain. 2010 May;133(Pt 5):1451-9. | ||||||
| Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. Distal arthrogryposis and muscle weakness associated with a ²ü-tropomyosin mutation. Neurology 2007c;68:772-775. | ||||||
| Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A. Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C. J Med Genet. 2010 Aug;47(8):575-7. Epub 2009 Oct 26. | ||||||
| Takahashi Y., Fukuda Y., Yoshimura J., Toyoda A., Kurppa K., Moritoyo T., et al. ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. Am. J. Hum. Genet. 93: 900-905, 2013. | ||||||
| Takashima H, Nakagawa M, Nakahara K, Suehara M, Matsuzaki T, Higuchi I, Higa H, Arimura K, Iwamasa T, Izumo S, Osame M. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997 Jun;41(6):771-80. | ||||||
| Takashima, H.; Boerkoel, C. F.; John, J.; Saifi, G. M.; Salih, M. A. M.; Armstrong, D.; Mao, Y.; Quiocho, F. A.; Roa, B. B.; Nakagawa, M.; Stockton, D. W.; Lupski, J. R. : Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nature Genet. 32: 267-272, 2002. | ||||||
| Takashima, H.; Nakagawa, M.; Suehara, M.; Saito, M.; Saito, A.; Kanzato, N.; Matsuzaki, T.; Hirata, K.; Terwilliger, J. D.; Osame, M. : Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromusc. Disord. 9: 368-371, 1999. | ||||||
| Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. J Med Genet. 2004 Mar;41(3):224-9. No abstract available. | ||||||
| Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nat Genet. 1993 Jul;4(3):300-4. | ||||||
| Tamiya, G., Makino, S., Hayashi, M., Abe, A., Numakura, C., Ueki, M., Tanaka, A., Ito, C., Toshimori, K., Ogawa, N., Terashima, T., Maegawa, H., Yanagisawa, D., Tooyama, I., Tada, M., Onodera, O., Hayasaka, K. A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 95: 294-300, 2014. | ||||||
| Tan-Sindhunata, M. B., Mathijssen, I. B., Smit, M., Baas, F., de Vries, J. I., van der Voorn, J. P., Kluijt, I., Hagen, M. A., Blom, E. W., Sistermans, E., Meijers-Heijboer, H., Waisfisz, Q., Weiss, M. M., Groffen, A. J. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Europ. J. Hum. Genet. 23: 1151-1157, 2015. | ||||||
| Tang, B.; Luo, W.; Xia, K.; Xiao, J.; Jiang, H.; Shen, L.; Tang, J.; Zhao, G.; Cai, F.; Pan, Q.; Dai, H.; Yang, Q.; Xia, J.; Evgrafov, O. V. : A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. Hum. Genet. 114: 527-533, 2004. | ||||||
| Tang, B.; Zhao, G.; Luo, W.; Xia, K.; Cai, F.; Pan, Q.; Zhang, R.; Zhang, F.; Liu, X.; Chen, B.; Zhang, C.; Shen, L.; Jiang, H.; Long, Z.; Dai, H. : Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum. Genet. 116: 222-224, 2005. | ||||||
| Tanigawa G, Jarcho JA, Kass S, Solomon SD, Vosberg HP, Seidman JG, Seidman CE. A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene. Cell. 1990 Sep 7;62(5):991-8. | ||||||
| Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet. 2003 Mar 1;12(5):527-34. | ||||||
| Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S. Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet. 1993 Jul;4(3):314-20. | ||||||
| Tarui, S.; Okuno, G.; Ikura, Y.; Tanaka, T.; Suda, M.; Nishikawa, M. : Phosphofructokinase deficiency in skeletal muscle: a new type of glycogenosis. Biochem. Biophys. Res. Commun. 19: 517-523, 1965. | ||||||
| Tasca G, Moro F, Aiello C, et al. Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene. Neurology 2013;80:963–5. | ||||||
| Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K and Itoyama Y. Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. Neurology 2002;58:323-5. | ||||||
| Tawara S, Nakazato M, Kangawa K, Matsuo H, Araki S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type). Biochem Biophys Res Commun. 1983 Nov 15;116(3):880-8. | ||||||
| Taylor, M. R.; Slavov, D.; Gajewski, A.; Vlcek, S.; Ku, L.; Fain, P. R.; Carniel, E.; Di Lenarda, A.; Sinagra, G.; Boucek, M. M.; Cavanaugh, J.; Graw, S. L.; Ruegg, P.; Feiger, J.; Zhu, X.; Ferguson, D. A.; Bristow, M. R.; Gotzmann, J.; Foisner, R.; Mestroni, L. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26, 566-74, 2005 | ||||||
| Taylor, R. W., Pyle, A., Griffin, H., Blakely, E. L., Duff, J., He, L., Smertenko, T., Alston, C. L., Neeve, V. C., Best, A., Yarham, J. W., Kirschner, J., and 17 others. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 312: 68-77, 2014. | ||||||
| Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012 | ||||||
| Tesson, C., Nawara, M., Salih, M. A. M., Rossignol, R., Zaki, M. S., Al Balwi, M., Schule, R., Mignot, C., Obre, E., Bouhouche, A., Santorelli, F. M., Durand, C. M., and 30 others. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am. J. Hum. Genet. 91: 1051-1064, 2012. | ||||||
| Tetreault M, Duquette A, Thiffault I, Bherer C, Jarry J, Loisel L, Banwell B, D'Anjou G, Mathieu J, Robitaille Y, Vanasse M, Brais B. A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21. Brain. 2006 Aug;129(Pt 8):2077-84. Epub 2006 Jun 7. | ||||||
| Tetreault, M., Gonzalez, M., Dicaire, M.-J., Allard, P., Gehring, K., Leblanc, D., Leclerc, N., Schondorf, R., Mathieu, J., Zuchner, S., Brais, B. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Brain 138: 1477-1483, 2015. | ||||||
| Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics. 2019 Apr 22. doi: 10.1007/s10048-019-00576-3. | ||||||
| Tezenas du Montcel, S.; Clot, F.; Vidailhet, M.; Roze, E.; Damier, P.; Jedynak, C. P.; Camuzat, A.; Lagueny, A.; Vercueil, L.; Doummar, D.; Guyant-Marechal, L.; Houeto, J.-L.; and 10 others : Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. J. Med. Genet. 43: 394-400, 2006. | ||||||
| Theis, J. L., Bos, J. M., Bartleson, V. B., Will, M. L., Binder, J., Vatta, M., Towbin, J. A., Gersh, B. J., Ommen, S. R., Ackerman, M. J. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 351: 896-902, 2006. | ||||||
| Theis, J. L., Sharpe, K. M., Matsumoto, M. E., Chai, H. S., Nair, A. A., Theis, J. D., de Andrade, M., Wieben, E. D., Michels, V. V., Olson, T. M. Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy. Circ. Cardiovasc. Genet. 4: 585-594, 2011. | ||||||
| Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994 Jun 3;77(5):701-12. | ||||||
| Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34. Brain. 2006 Sep;129(Pt 9):2332-40. Epub 2006 May 3. | ||||||
| Thomas, A. C., Williams, H., Seto-Salvia, N., Bacchelli, C., Jenkins, D., O'Sullivan, M., Mengrelis, K., Ishida, M., Ocaka, L., Chanudet, E., James, C., Lescai, F., and 22 others. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. Am. J. Hum. Genet. 95: 611-621, 2014. Note: Erratum: Am. J. Hum. Genet. 96: 1008-1009, 2015. | ||||||
| Thomas, N. S. T.; Williams, H.; Cole, G.; Roberts, K.; Clarke, A.; Liechti-Gallati, S.; Braga, S.; Gerber, A.; Meier, C.; Moser, H.; Harper, P. S. : X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. J. Med. Genet. 27: 284-287, 1990. | ||||||
| Thompson, K., Majd, H., Dallabona, C., Reinson, K., King, M. S., Alston, C. L., He, L., Lodi, T., Jones, S. A., Fattal-Valevski, A., Fraenkel, N. D., Saada, A., and 16 others. Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. Am. J. Hum. Genet. 99: 860-876, 2016. Note: Erratum: Am. J. Hum. Genet. 99: 1405 only, 2016. | ||||||
| Tiab, L.; d'Alleves Manzi, V.; Borruat, F.-Z.; Munier, F. L.; Schorderet, D. F. : Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthal. Genet. 25: 241-246, 2004. | ||||||
| Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. PMID: 31178126 | ||||||
| Timal, S., Hoischen, A., Lehle, L., Adamowicz, M., Huijben, K., Sykut-Cegielska, J., Paprocka, J., Jamroz, E., van Spronsen, F. J., Korner, C., Gilissen, C., Rodenburg, R. J., Eidhof, I., Van den Heuvel, L., Thiel, C., Wevers, R. A., Morava, E., Veltman, J., Lefeber, D. J. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum. Molec. Genet. 21: 4151-4161, 2012. | ||||||
| Timmerman V, Nelis E, Van Hul W, Nieuwenhuijsen BW, Chen KL, Wang S, Ben Othman K, Cullen B, Leach RJ, Hanemann CO, et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet. 1992 Jun;1(3):171-5. Erratum in: Nat Genet 1992 Sep;2(1):84. | ||||||
| Timmerman V, Raeymaekers P, De Jonghe P, De Winter G, Swerts L, Jacobs K, Gheuens J, Martin JJ, Vandenberghe A, Van Broeckhoven C. Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12. Am J Hum Genet. 1990 Oct;47(4):680-5. | ||||||
| Timmerman, V., Raeymaekers, P., Nelis, E., De Jonghe, P., Muylle, L., Ceuterick, C., Martin, J.-J., Van Broeckhoven, C. Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J. Neurol. Sci. 109: 41-48, 1992. | ||||||
| Tischfield, M. A., Baris, H. N., Wu, C., Rudolph, G., Van Maldergem, L., He, W., Chan, W.-M., Andrews, C., Demer, J. L., Robertson, R. L., Mackey, D. A., Ruddle, J. B., and 37 others Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 140: 74-87, 2010. | ||||||
| Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001:10:189-194. | ||||||
| Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M [corrected to Sakai M, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993 Nov;5(3):283-6. Erratum in: Nat Genet 1994 May;7(1):113. | ||||||
| Tome FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, Barois A, Campbell KP, Fardeau M. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III. 1994 Apr;317(4):351-7. | ||||||
| Topaloglu, H., Brockington, M., Yuva, Y., Talim, B., Haliloglu, G., Blake, D., Torelli, S., Brown, S. C., Muntoni, F. FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. Neurology 60: 988-992, 2003. Note: Erratum: Neurology 60: 1875 only, 2003. | ||||||
| Torella A, Fanin M, Mutarelli M, Peterle E, Del Vecchio Blanco F, Rispoli R, Savarese M, Garofalo A, Piluso G, Morandi L, Ricci G, Siciliano G, Angelini C, Nigro V. Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F. PLoS One. 2013 May 7;8(5):e63536. | ||||||
| Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 2006;140: 2387-2393. | ||||||
| Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-565 | ||||||
| Tranebjaerg, L.; Teslovich, T. M.; Jones, M.; Barmada, M. M.; Fagerheim, T.; Dahl, A.; Escolar, D. M.; Trent, J. M.; Gillanders, E. M.; Stephan, D. A. : Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13. Hum. Genet. 113: 293-295, 2003. | ||||||
| Tsai P.C., Soong B.W., Mademan I., Huang Y.H., Liu C.R., Hsiao C.T., et al. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain. 2017 Mar 22. | ||||||
| Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. Epub 2008 Jan 18. | ||||||
| Tsaousidou, M. K., Ouahchi, K., Warner, T. T., Yang, Y., Simpson, M. A., Laing, N. G., Wilkinson, P. A., Madrid, R. E., Patel, H., Hentati, F., Patton, M. A., Hentati, A., Lamont, P. J., Siddique, T., Crosby, A. H. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am. J. Hum. Genet. 82: 510-515, 2008. | ||||||
| Tsoi, H., Yu, A. C. S., Chen, Z. S., Ng, N. K. N., Chan, A. Y. Y., Yuen, L. Y. P., Abrigo, J. M., Tsang, S. Y., Tsui, S. K. W., Tong, T. M. F., Lo, I. F. M., Lam, S. T. S., Mok, V. C. T., Wong, L. K. S., Ngo, J. C. K., Lau, K.-F., Chan, T.-F., Chan, H. Y. E. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia. J. Med. Genet. 51: 590-595, 2014. | ||||||
| Tsubata, S.; Bowles, K. R.; Vatta, M.; Zintz, C.; Titus, J.; Muhonen, L.; Bowles, N. E.; Towbin, J. A. : Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106: 655-662, 2000. | ||||||
| Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23. | ||||||
| Tsujino S, Shanske S, DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med. 1993 Jul 22;329(4):241-5. | ||||||
| Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S. The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. Am J Hum Genet. 1993 Mar;52(3):472-7. | ||||||
| Tyson, J., L. Tranebjaerg, S. Bellman, C. Wren, J. F. Taylor, J. Bathen, B. Aslaksen, S. J. Sorland, O. Lund, S. Malcolm, M. Pembrey, S. Bhattacharya and M. Bitner-Glindzicz IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. Hum Mol Genet 1997, 6, 2179-85. | ||||||
| Tyynismaa, H., Sun, R., Ahola-Erkkila, S., Almusa, H., Poyhonen, R., Korpela, M., Honkaniemi, J., Isohanni, P., Paetau, A., Wang, L., Suomalainen, A. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Hum. Molec. Genet. 21: 66-75, 2012. | ||||||
| Tyynismaa, H., Ylikallio, E., Patel, M., Molnar, M. J., Haller, R. G., Suomalainen, A. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 85: 290-295, 2009. | ||||||
| Ueda, K., Hirano, Y., Higashiuesato, Y., Aizawa, Y., Hayashi, T., Inagaki, N., Tana, T., Ohya, Y., Takishita, S., Muratani, H., Hiraoka, M., Kimura, A. Role of HCN4 channel in preventing ventricular arrhythmia. J. Hum. Genet. 54: 115-121, 2009. | ||||||
| Ueda, K., Valdivia, C., Medeiros-Domingo, A., Tester, D. J., Vatta, M., Farrugia, G., Ackerman, M. J., Makielski, J. C. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc. Nat. Acad. Sci. 105: 9355-9360, 2008. | ||||||
| Upadhyaya M, Lunt P, Sarfarazi M, Broadhead W, Farnham J, Harper PS. The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD). Am J Hum Genet. 1992 Aug;51(2):404-10. | ||||||
| Upadhyaya M, Lunt PW, Sarfarazi M, Broadhead W, Daniels J, Owen M, Harper PS. DNA marker applicable to presymptomatic and prenatal diagnosis of facioscapulohumeral disease. Lancet. 1990 Nov 24;336(8726):1320-1. | ||||||
| Utine, G. E., Haliloglu, G., Salanci, B., Cetinkaya, A., Kiper, P. O., Alanay, Y., Aktas, D., Boduroglu, K., Alikasifoglu, M. A homozygous deletion in GRID2 causes a human phenotype with cerebellar ataxia and atrophy. J. Child Neurol. 28: 926-932, 2013. | ||||||
| Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37:289- 293. | ||||||
| Valdes-Mas, R., Gutierrez-Fernandez, A., Gomez, J., Coto, E., Astudillo, A., Puente, D. A., Reguero, J. R., Alvarez, V., Moris, C., Leon, D., Martin, M., Puente, X. S., Lopez-Otin, C. Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. Nature Commun. 5: 5326, 2014. Note: Electronic Article. | ||||||
| Valdmanis, P. N.; Meijer, I. A.; Reynolds, A.; Lei, A.; MacLeod, P.; Schlesinger, D.; Zatz, M.; Reid, E.; Dion, P. A.; Drapeau, P.; Rouleau, G. A. : Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am. J. Hum. Genet. 80: 152-161, 2007. | ||||||
| Valente, E. M.; Brancati, F.; Caputo, V.; Bertini, E.; Patrono, C.; Costanti, D.; Dallapiccola, B. : Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34. Ann. Neurol. 51: 681-685, 2002. | ||||||
| Van Damme, P., Veldink, J. H., van Blitterswijk, M., Corveleyn, A., van Vught, P. W. J., Thijs, V., Dubois, B., Matthijs, G., van den Berg, L. H., Robberecht, W. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76: 2066-2072, 2011. | ||||||
| van de Leemput, J.; Chandran, J.; Knight, M. A.; Holtzclaw, L. A.; Scholz, S.; Cookson, M. R.; Houlden, H.; Gwinn-Hardy, K.; Fung, H.-C.; Lin, X.; Hernandez, D.; Simon-Sanchez, J.; and 11 others : Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3: e108, 2007. | ||||||
| van de Locht M, Donkervoort S, de Winter JM, Conijn S, Begthel L, Kusters B, Mohassel P, Hu Y, Medne L, Quinn C, Moore SA, Foley AR, Seo G, Hwee DT, Malik FI, Irving T, Ma W, Granzier HL, Kamsteeg EJ, Immadisetty K, Kekenes-Huskey P, Pinto JR, Voermans N, Bönnemann CG, Ottenheijm CA. Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. J Clin Invest. 2021 May 3;131(9):e145700. doi: 10.1172/JCI145700. PMID: 33755597; PMCID: PMC8087209. | ||||||
| van den Brink, D. M.; Brites, P.; Haasjes, J.; Wierzbicki, A. S.; Mitchell, J.; Lambert-Hamill, M.; de Belleroche, J.; Jansen, G. A.; Waterham, H. R.; Wanders, R. J. A. : Identification of PEX7 as the second gene involved in Refsum disease. Am. J. Hum. Genet. 72: 471-477, 2003. | ||||||
| van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet. 1997 Apr;60(4):891-5. | ||||||
| van der Maarel, S. M.; Frants, R. R. : The D4Z4 repeat-mediated pathogenesis of facioscapulohumeral muscular dystrophy. Am. J. Hum. Genet. 76: 375-386, 2005. | ||||||
| Van der Vleuten, A. J. W.; van Ravenswaaij-Arts, C. M. A.; Frijns, C. J. M.; Smits, A. P. T.; Hageman, G.; Padberg, G. W.; Kremer, H. : Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24. Europ. J. Hum. Genet. 6: 376-382, 1998. | ||||||
| Van Deutekom JC, Wijmenga C, van Tienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet. 1993 Dec;2(12):2037-42. | ||||||
| Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001 Jul;28(3):211-2. | ||||||
| Van Goethem, G., Schwartz, M., Lofgren, A., Dermaut, B., Van Broeckhoven, C., Vissing, J. Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Europ. J. Hum. Genet. 11: 547-549, 2003. | ||||||
| Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M. Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3. Nat Commun. 2016 Jun 30;7:12039. doi: 10.1038/ncomms12039. PMID: 27356879; PMCID: PMC4931328. | ||||||
| van Hengel, J., Calore, M., Bauce, B., Dazzo, E., Mazzotti, E., De Bortoli, M., Lorenzon, A., Li Mura, I. E. A., Beffagna, G., Rigato, I., Vleeschouwers, M., Tyberghein, K., and 10 others. Mutations in the area composita protein alpha-T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. Europ. Heart J. 34: 201-210, 2013. | ||||||
| Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ. Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome. Circulation. 2007 Nov 13;116(20):2253-9. Epub 2007 Oct 29. | ||||||
| van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13. | ||||||
| van Reeuwijk, J.; Maugenre, S.; van den Elzen, C.; Verrips, A.; Bertini, E.; Muntoni, F.; Merlini, L.; Scheffer, H.; Brunner, H. G.; Guicheney, P.; van Bokhoven, H.: The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum. Mutat. 27: 453-459, 2006. | ||||||
| van Swieten, J. C.; Brusse, E.; de Graaf, B. M.; Krieger, E.; van de Graaf, R.; de Koning, I.; Maat-Kievit, A.; Leegwater, P.; Dooijes, D.; Oostra, B. A.; Heutink, P. : A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebral (sic) ataxia. Am. J. Hum. Genet. 72: 191-199, 2003. | ||||||
| van Tol W, Ashikov A, Korsch E, et al. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019;50(1):31-39. Published 2019 Sep 30. doi:10.1002/jmd2.12060 | ||||||
| Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. Exp Neurol. 1989 May;104(2):186-9. | ||||||
| Vance, C.; Rogelj, B.; Hortobagyi, T.; De Vos, K. J.; Nishimura, A. L.; Sreedharan, J.; Hu, X.; Smith, B.; Ruddy, D.; Wright, P.; Ganesalingam, J.; Williams, K. L.; and 10 others : Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323: 1208-1211, 2009. | ||||||
| Varga, R.-E., Schule, R., Fadel, H., Valenzuela, I., Speziani, F., Gonzalez, M., Rudenskaia, G., Nurnberg, G., Thiele, H., Altmuller, J., Alvarez, V., Gamez, J., Garbern, J. Y., Nurnberg, P., Zuchner, S., Beetz, C. Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. Hum. Mutat. 34: 860-863, 2013. | ||||||
| Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochm²ºller H, M²ºllner-Eidenb²∂ck A, Merlini L, Neumann L, B²ºrger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet. 2003 Oct;35(2):185-9. Epub 2003 Sep 21. | ||||||
| Vasile V C, Will M L, Ommen S R, Edwards W D, Olson T M, Ackerman M J. Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. Mol Genet Metab 2006; 87: 169-74. | ||||||
| Vasilescu, C., Ojala, T. H., Brilhante, V., Ojanen, S., Hinterding, H. M., Palin, E., Alastalo, T.-P., Koskenvuo, J., Hiippala, A., Jokinen, E., Jahnukainen, T., Lohi, J., Pihkala, J., Tyni, T. A., Carroll, C. J., Suomalainen, A. Genetic basis of severe childhood-onset cardiomyopathies. J. Am. Coll. Cardiol. 72: 2324-2338, 2018 | ||||||
| Vasli, N., Harris, E., Karamchandani, J., Bareke, E., Majewski, J., Romero, N. B., Stojkovic, T., Barresi, R., Tasfaout, H., Charlton, R., Malfatti, E., Bohm, J., and 13 others. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 140: 37-48, 2017 | ||||||
| Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ and Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006;114:2104-12. | ||||||
| Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. | ||||||
| Vatta, M., Mohapatra, B., Jimenez, S., Sanchez, X., Faulkner, G., Perles, Z., Sinagra, G., Lin, J.-H., Vu, T. M., Zhou, Q., Bowles, K. R., Di Lenarda, A., and 10 others. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J. Am. Coll. Cardiol. 42: 2014-2017, 2003. | ||||||
| Vaz, F. M., McDermott, J. H., Alders, M., Wortmann, S. B., Kolker, S., Pras-Raves, M. L., Vervaart, M. A. T., van Lenthe, H., Luyf, A. C. M., Elfrink, H. L., Metcalfe, K., Cuvertino, S., and 13 others. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain 142: 3382-3397, 2019.[PubMed: 31637422, | ||||||
| Vazza, G.; Zortea, M.; Boaretto, F.; Micaglio, G. F.; Sartori, V.; Mostacciuolo, M. L. : A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am. J. Hum. Genet. 67: 504-509, 2000. | ||||||
| Verbeek, D. S.; Schelhaas, J. H.; Ippel, E. F.; Beemer, F. A.; Pearson, P. L.; Sinke, R. J. : Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21. Hum. Genet. 111: 388-393, 2002. | ||||||
| Verbeek, D. S.; van de Warrenburg, B. P.; Wesseling, P.; Pearson, P. L.; Kremer, H. P.; Sinke, R. J. : Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3. Brain 127: 2551-2557, 2004. | ||||||
| Verdura, E., Rodriguez-Palmero, A., Velez-Santamaria, V., Planas-Serra, L., de la Calle, I., Raspall-Chaure, M., Roubertie, A., Benkirane, M., Saettini, F., Pavinato, L., Mandrile, G., O'Leary, M., and 23 others. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain 144: 2659-2669, 2021.[PubMed: 34415322 | ||||||
| Verhagen, J. M. A., van den Born, M., van der Linde, H. C., Nikkels, P. G. J., Verdijk, R. M., Kivlen, M. H., van Unen, L. M. A., Baas, A. F., ter Heide, H., van Osch-Gevers, L., Hoogeveen-Westerveld, M., Herkert, J. C., and 10 others. Biallelic variants in ASNA1, encoding a cytosolic targeting factor of tail-anchored proteins, cause rapidly progressive pediatric cardiomyopathy. Circ. Genom. Precis. Med. 12: 397-406, 2019. Note: Erratum: Circ. Genom. Precis. Med. 13: e000065, 2020.[PubMed: 31461301, | ||||||
| Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V. Localization of the gene for the intermediate form of Charcot-Marie-Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet. 2001 Oct;69(4):889-94. Epub 2001 Aug 30. | ||||||
| Verhoeven, K.; De Jonghe, P.; Van de Putte, T.; Nelis, E.; Zwijsen, A.; Verpoorten, N.; De Vriendt, E.; Jacobs, A.; Van Gerwen, V.; Francis, A.; Ceuterick, C.; Huylebroeck, D.; Timmerman, V. : Slowed conduction and thin myelination of peripheral nerves associated with mutant Rho guanine-nucleotide exchange factor 10. Am. J. Hum. Genet. 73: 926-932, 2003. | ||||||
| Verkerk, A. J. M. H., Schot, R., Dumee, B., Schellekens, K., Swagemakers, S., Bertoli-Avella, A. M., Lequin, M. H., Dudink, J., Govaert, P., van Zwol, A. L., Hirst, J., Wessels, M. W., and 9 others. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85: 40-52, 2009. | ||||||
| Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., de Brouwer, A., Koenig, M., Anheim, M., Assoum, M., Drouot, N., Todorovic, S., and 18 others. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am. J. Hum. Genet. 87: 813-819, 2010. | ||||||
| Vester, A., Velez-Ruiz, G., McLaughlin, H. M., NISC Comparative Sequencing Program, Lupski, J. R., Talbot, K., Vance, J. M., Zuchner, S., Roda, R. H., Fischbeck, K. H., Biesecker, L. G., Nicholson, G., Beg, A. A., Antonellis, A. A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo. Hum. Mutat. 34: 191-199, 2013. | ||||||
| Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. N Engl J Med 2004;351:460-469. | ||||||
| Vieira, N. M., Naslavsky, M. S., Licinio, L., Kok, F., Schlesinger, D., Vainzof, M., Sanchez, N., Kitajima, J. P., Gal, L., Cavacana, N., Serafini, P. R., Chuartzman, S., Vasquez, C., Mimbacas, A., Nigro, V., Pavanello, R. C., Schuldiner, M., Kunkel, L. M., Zatz, M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum. Molec. Genet. 23: 4103-4110, 2014. | ||||||
| Vihola A, Palmio J, Danielsson O, Penttilä S, Louiselle D, Pittman S, Weihl C, Udd B. Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression. Neurol Genet. 2019 May 2;5(3):e337. doi: 10.1212/NXG.0000000000000337. eCollection 2019 Jun. PubMed PMID: 31192305; PubMed Central PMCID: PMC6515942. | ||||||
| Villar-Quiles RN, Gomez-Garcia de la Banda M, Barois A, et al. Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy. J Neuromuscul Dis. 2020;7(1):69-76. | ||||||
| Villard, L.; des Portes, V.; Levy, N.; Louboutin, J.-P.; Recan, D.; Coquet, M.; Chabrol, B.; Figarella-Branger, D.; Chelly, J.; Pellissier, J.-F.; Fontes, M. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Europ. J. Hum. Genet. 8: 125-129, 2000. | ||||||
| Viollet L, Zarhrate M, Maystadt I, Estournet-Mathiaut B, Barois A, Desguerre I, Mayer M, Chabrol B, LeHeup B, Cusin V, Billette De Villemeur T, Bonneau D, Saugier-Veber P, Touzery-De Villepin A, Delaubier A, Kaplan J, Jeanpierre M, Feingold J, Munnich A. Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families. Eur J Hum Genet. 2004 Jun;12(6):483-8. | ||||||
| Vissing, J., Barresi, R., Witting, N., Van Ghelue, M., Gammelgaard, L., Bindoff, L. A., Straub, V., Lochmuller, H., Hudson, J., Wahl, C. M., Arnardottir, S., Dahlbom, K., Jonsrud, C., Duno, M. A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. Brain 139: 2154-2163, 2016.016 | ||||||
| Vissing, J., Johnson, K., Topf, A., Nafissi, S., Diaz-Manera, J., French, V. M., Schindler, R. F., Sarathchandra, P., Lokken, N, Rinne, S., Freund, M., Decher, N., Muller, T., Duno, M., Krag, T., Brand, T., Straub, V. POPDC3 gene variants associate with a new form of limb girdle muscular dystrophy. Ann. Neurol. 86: 832-843, 2019. | ||||||
| Vogt, J., Harrison, B. J., Spearman, H., Cossins, J., Vermeer, S., ten Cate, L. N., Morgan, N. V., Beeson, D., Maher, E. R. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am. J. Hum. Genet. 82: 222-227, 2008 | ||||||
| Vogt, J., Morgan, N. V., Marton, T., Maxwell, S., Harrison, B. J., Beeson, D., Maher, E. R. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J. Med. Genet. 46: 338-340, 2009. | ||||||
| Von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet. 1995 Feb;4(2):279-84. | ||||||
| Vora S, Durham S, de Martinville B, George DL, Francke U. Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen leads to q32) using somatic cell hybrids and monoclonal anti-M antibody. Somatic Cell Genet. 1982 Jan;8(1):95-104. | ||||||
| Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. Epub 2005 May 31. | ||||||
| Vuillaume, I.; Devos, D.; Schraen-Maschke, S.; Dina, C.; Lemainque, A.; Vasseur, F.; Bocquillon, G.; Devos, P.; Kocinski, C.; Marzys, C.; Destee, A.; Sablonniere, B. : A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1. Ann. Neurol. 52: 666-670, 2002. | ||||||
| Vuillaumier-Barrot, S., Bouchet-Seraphin, C., Chelbi, M., Devisme, L., Quentin, S., Gazal, S., Laquerriere, A., Fallet-Bianco, C., Loget, P., Odent, S., Carles, D., Bazin, A., and 14 others. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am. J. Hum. Genet. 91: 1135-1143, 2012. | ||||||
| Wagner, M., Osborn, D. P. S., Gehweiler, I., Nagel, M., Ulmer, U., Bakhtiari, S., Amouri, R., Boostani, R., Hentati, F., Hockley, M. M., Holbling, B., Schwarzmayr, T., and 17 others. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature Commun. 10: 4790, 2019.[PubMed: 31636353, | ||||||
| Walinka van Tol, Angel Ashikov, Eckhard Korsch, Nurulamin Abu Bakar, Michèl A Willemsen, Christian Thiel, Dirk J Lefeber. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. JIMD Rep. 2019 Sep 30;50(1):31-39. doi: 10.1002/jmd2.12060. eCollection 2019 Nov. | ||||||
| Wallgren-Pettersson C, Lehtokari V L, Kalimo H, Paetau A, Nuutinen E, Hackman P, Sewry C, Pelin K, Udd B. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007; 130: 1465-76. | ||||||
| Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, De Visser M, Van Langen IM, et al. A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis. Neuromuscul Disord. 1995 Nov;5(6):441-3. | ||||||
| Wallgren-Pettersson, C.; Donner, K.; Sewry, C.; Bijlsma, E.; Lammens, M.; Bushby, K.; Giovannucci Uzielli, M. L.; Lapi, E.; Odent, S.; Akcoren, Z.; Topaloglu, H.; Pelin, K. : Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromusc. Disord. 12: 674-679, 2002. | ||||||
| Wan, J., Steffen, J., Yourshaw, M., Mamsa, H., Andersen, E., Rudnik-Shoneborn, S., Pope, K., Howell, K. B., McLean, C. A., Kornberg, A. J., Joseph, J., Lockhart, P. J., Zerres, K., Ryan, M. M., Nelson, S. F., Koehler, C. M., Jen, J. C. Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia. Brain 139: 2877-2890, 2016. | ||||||
| Wang H, Li Z, Wang J, Sun K, Cui Q, Song L, Zou Y, Wang X, Liu X, Hui R, Fan Y. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. Am J Hum Genet. 2010 Nov 12;87(5):687-93. Epub 2010 Oct 21. | ||||||
| Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet. 1996 Jan;12(1):17-23. | ||||||
| Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995 Mar 10;80(5):805-11. | ||||||
| Wang, H.-L.; Milone, M.; Ohno, K.; Shen, X-M.; Tsujino, A.; Batocchi,m A. P.; Tonali, P.; Brengman, J.; Engel, A. G.; Sine, S. M. : Acetylcholine receptor M3 domain: sterochemical and volume contributions to channel gating. Nature Neurosci. 2: 226-233, 1999. | ||||||
| Wang, J. L., Yang, X., Xia, K., Hu, Z. M., Weng, L., Jin, X., Jiang, H., Zhang, P., Shen, L., Guo, J. F., Li, N., Li, Y. R., and 9 others. TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133: 3510-3518, 2010. | ||||||
| Wang, S. M.; Zwaan, J.; Mullaney, P. B.; Jabak, M. H.; Al-Awad, A.; Beggs, A. H.; Engle, E. C. : Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am. J. Hum. Genet. 63: 517-525, 1998. | ||||||
| Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet. 1998 Apr;18(4):382-4. | ||||||
| Warner, L. E.; Hilz, M. J.; Appel, S. H.; Killian, J. M.; Kolodny, E. H.; Karpati, G.; Carpenter, S.; Watters, G. V.; Wheeler, C.; Witt, D.; Bodell, A.; Nelis, E.; Van Broeckhoven, C.; Lupski, J. R. : Clinical phenotypes of different MPZ(P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17: 451-460, 1996. | ||||||
| Watanabe, H., Darbar, D., Kaiser, D. W., Jiramongkolchai, K., Chopra, S., Donahue, B. S., Kannankeril, P. J., Roden, D. M. Mutations in sodium channel beta-1- and beta-2-subunits associated with atrial fibrillation. Circ. Arrhythm. Electrophysiol. 2: 268-278, 2009. | ||||||
| Watanabe, H., Koopmann, T. T., Le Scouarnec, S., Yang, T., Ingram, C. R., Schott, J.-J., Demolombe, S., Probst, V., Anselme, F., Escande, D., Wiesfeld, A. C. P., Pfeufer, A., Kaab, S., Wichmann, H.-E., Hasdemir, C., Aizawa, Y., Wilde, A. A. M., Roden, D. M., Bezzina, C. R. Sodium channel beta-1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J. Clin. Invest. 118: 2260-2268, 2008. | ||||||
| Waters, M. F.; Minassian, N. A.; Stevanin, G.; Figueroa, K. P.; Bannister, J. P. A.; Nolte, D.; Mock, A. F.; Evidente, V. G. H.; Fee, D. B.; Muller, U.; Durr, A.; Brice, A.; Papazian, D. M.; Pulst, S. M. : Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes. Nature Genet. 38: 447-451, 2006. | ||||||
| Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995 Dec;11(4):434-7. | ||||||
| Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet. 1993 Apr;3(4):333-7. | ||||||
| Watson CM, Crinnion LA, Murphy H, Newbould M, Harrison SM, Lascelles C, Antanaviciute A, Carr IM, Sheridan E, Bonthron DT, Smith A. Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. J Med Genet. 2016 Apr;53(4):264-9. doi: 10.1136/jmedgenet-2015-103620. Epub 2016 Jan 5. PMID: 26733463; PMCID: PMC4819622. | ||||||
| Watson, L. M., Bamber, E., Schnekenberg, R. P., Williams, J., Bettencourt, C., Jayawant, S., Lickiss, J., Fawcett, K., Clokie, S., Wallis, Y., Clouston, P., Sims, D., Houlden, H., Becker, E. B. E., Nemeth, A. H. Dominant mutations in GRM1 cause spinocerebellar ataxia type 44. Am. J. Hum. Genet. 101: 451-458, 2017. Note: Erratum: Am. J. Hum. Genet. 101: 866 only, 2017. | ||||||
| Watts, G. D. J.; Wymer, J.; Kovach, M. J.; Mehta, S. G.; Mumm, S.; Darvish, D.; Pestronk, A.; Whyte, M. P.; Kimonis, V. E. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genet. 36: 377-381, 2004. | ||||||
| Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S. Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am. J. Hum. Genet. 89: 308-312, 2011 | ||||||
| Wehner M, Clemens PR, Engel AG, Kilimann MW. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet. 1994 Nov;3(11):1983-7. | ||||||
| Weihl CC, Töpf A, Bengoechea R, Duff J, Charlton R, Garcia SK, Domínguez-González C, Alsaman A, Hernández-Laín A, Franco LV, Sanchez MEP, Beecroft SJ, Goullee H, Daw J, Bhadra A, True H, Inoue M, Findlay AR, Laing N, Olivé M, Ravenscroft G, Straub V. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol. 2022 Oct 20. doi: 10.1007/s00401-022-02510-8. Online ahead of print. PMID: 36264506 | ||||||
| Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet. 1998 Jul;63(1):140-7. | ||||||
| Weiss, R.; Barmada, M. M.; Nguyen, T.; Seibel, J. S.; Cavlovich, D.; Kornblit, C. A.; Angelilli, A.; Villanueva, F.; McNamara, D. M.; London, B. : Clinical and molecular heterogeneity in the Brugada syndrome: a novel gene locus on chromosome 3. Circulation 105: 707-713, 2002. | ||||||
| Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, et al. 2013. Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. Brain 136: 282–293.doi:10.1093/brain/aws293 | ||||||
| Weterman, M. A., Sorrentino, V., Kasher, P. R., Jakobs, M. E., van Engelen, B. G. M., Fluiter, K., de Wissel, M. B., Sizarov, A., Nurnberg, G., Nurnberg, P., Zelcer, N., Schelhaas, H. J., Baas, F. A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. Hum. Molec. Genet. 21: 358-370, 2012. | ||||||
| Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., Schoser, B., Sewry, C., Roper, H., Phadke, R., Bettolo, C. M., Barresi, R. and 26 others. Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100: 523-536, 2017. | ||||||
| Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy gene on chromosome 4. Lancet. 1990 Sep 15;336(8716):651-3. | ||||||
| Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R, et al. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet. 1992 Sep;2(1):26-30. | ||||||
| Wijmenga C, Padberg GW, Moerer P, Wiegant J, Liem L, Brouwer OF, Milner EC, Weber JL, van Ommen GB, Sandkuyl LA, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics. 1991 Apr;9(4):570-5. | ||||||
| Wijmenga C, Wright TJ, Baan MJ, Padberg GW, Williamson R, van Ommen GJ, Hewitt JE, Hofker MH, Frants RR. Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region. Hum Mol Genet. 1993 Oct;2(10):1667-72. | ||||||
| Wilkinson, P. A.; Simpson, M. A.; Bastaki, L.; Patel, H.; Reed, J. A.; Kalidas, K.; Samilchuk, E.; Khan, R.; Warner, T. T.; Crosby, A. H. : A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. (Letter) J. Med. Genet. 42: 80-82, 2005. | ||||||
| Willer, T., Lee, H., Lommel, M., Yoshida-Moriguchi, T., Valero de Bernabe, D. B., Venzke, D., Cirak, S., Schachter, H., Vajsar, J., Voit, T., Muntoni, F., Loder, A. S., Dobyns, W. B., Winder, T. L., Strahl, S., Mathews, K. D., Nelson, S. F., Moore, S. A., Campbell, K. P. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nature Genet. 44: 575-580, 2012. | ||||||
| Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, Kress W, M²ºller CR, Ndondo A, Cloke V, Cullup T, Bertini E, Boennemann C, Straub V, Quinlivan R, Dowling JJ, Al-Sarraj S, Treves S, Abbs S, Manzur AY, Sewry CA, Muntoni F, Jungbluth H. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 Nov;68(5):717-26. | ||||||
| Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, L²∂scher WN, Wagner K, Lochm²ºller H, Vincent JB, Quasthoff S. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99. | ||||||
| Windpassinger, C.; Auer-Grumbach, M.; Irobi, J.; Patel, H.; Petek, E.; Horl, G.; Malli, R.; Reed, J. A.; Dierick, I.; Verpoorten, N.; Warner, T. T.; Proukakis, C.; Van den Bergh, P.; Verellen, C.; Van Maldergem, L.; Merlini, L.; De Jonghe, P.; Timmerman, V.; Crosby, A. H.; Wagner, K. : Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nature Genet. 36: 271-276, 2004. | ||||||
| Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. PMID: 33169484; PMCID: PMC7898715. | ||||||
| Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 Aug 27. doi: 10.1002/ajmg.a.40493. | ||||||
| Wokke, J. H. J.; Ausems, M. G. E. M.; van den Boogaard, M.-J. H.; Ippel, E. F.; van Diggelen, O.; Kroos, M. A.; Boer, M.; Jennekens, F. G. I.; Reuser, A. J. J.; Ploos van Amstel, H. K. : Genotype-phenotype correlation in adult-onset acid maltase deficiency. Ann. Neurol. 38: 450-454, 1995. | ||||||
| Worman HJ, Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007 Jun 10;313(10):2121-33. Epub 2007 Mar 30. Review. | ||||||
| Worth PF, Giunti P, Gardner-Thorpe C, Dixon PH, Davis MB, Wood NW. Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3. Am J Hum Genet. 1999 Aug;65(2):420-6. | ||||||
| Wright TJ, Wijmenga C, Clark LN, Frants RR, Williamson R, Hewitt JE. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Hum Mol Genet. 1993 Oct;2(10):1673-8. | ||||||
| Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K and Hu GF. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol 2007;62:609-17. | ||||||
| Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D., Baron, D. M., Kost, J. E., Gonzalez-Perez, P., and 26 others. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488: 499-503, 2012. | ||||||
| Xia, M., Jin, Q., Bendahhou, S., He, Y., Larroque, M.-M., Chen, Y., Zhou, Q., Yang, Y., Liu, Y., Liu, B., Zhu, Q., Zhou, Y., and 12 others. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem. Biophys. Res. Commun. 332: 1012-1019, 2005. | ||||||
| Xu WY, Gu MM, Sun LH, Guo WT, Zhu HB, Ma JF, Yuan WT, Kuang Y, Ji BJ, Wu XL, Chen Y, Zhang HX, Sun FT, Huang W, Huang L, Chen SD, Wang ZG. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet. 2012 Dec 7;91(6):1088-94. doi: 10.1016/j.ajhg.2012.09.018. Epub 2012 Nov 8. | ||||||
| Xue YY, Cheng HL, Dong HL, Yin HM, Yuan Y, Meng LC, Wu ZY, Yu H. A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report. BMC Neurol. 2021 Oct 20;21(1):402. doi: 10.1186/s12883-021-02399-y. PMID: 34666706; PMCID: PMC8527611. | ||||||
| Yahia, A., Elsayed, L. E. O., Valter, R., Hamed, A. A. A., Mohammed, I. N., Elseed, M. A., Salih, M. A., Esteves, T., Auger, N., Abubaker, R., Koko, M., Abozar, F., and 17 others. Pathogenic variants in ABHD16A cause a novel psychomotor developmental disorder with spastic paraplegia. Front. Neurol. 12: 720201, 2021.[PubMed: 34489854, | ||||||
| Yang, A. C., Ng, B. G., Moore, S. A., Rush, J., Waechter, C. J., Raymond, K. M., Willer, T., Campbell, K. P., Freeze, H. H., Mehta, L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Molec. Genet. Metab. 110: 345-351, 2013. | ||||||
| Yang, Y., Liu, W., Fang, Z., Shi, J., Che, F., He, C., Yao, L., Wang, E., Wu, Y. A newly identified missense mutation in FARS2 causes autosomal-recessive spastic paraplegia. Hum. Mutat. 37: 165-169, 2016. | ||||||
| Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S.-P., Rasmussen, H. B., Ellinor, P. T., Gao, L., Lin, X., Li, L., and 9 others. Identification of a Kir3.4 mutation in congenital long QT syndrome. Am. J. Hum. Genet. 86: 872-880, 2010. | ||||||
| Yang, Y.; Li, J.; Lin, X.; Yang, Y.; Hong, K.; Wang, L.; Liu, J.; Li, L.; Yan, D.; Liang, D.; Xiao, J.; Jin, H.; Wu, J.; Zhang, Y.; Chen, Y.-H. Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation. J. Hum. Genet. 54: 277-283, 2009. | ||||||
| Ylikallio E, Pöyhönen R, Zimon M, De Vriendt E, Hilander T, Paetau A, Jordanova A, Lönnqvist T, Tyynismaa H. Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy. Hum Mol Genet. 2013 Aug 1;22(15):2975-83. doi: 10.1093/hmg/ddt149. Epub 2013 Apr 4. | ||||||
| Ylikallio, E., Kim, D., Isohanni, P., Auranen, M., Kim, E., Lonnqvist, T., Tyynismaa, H. Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia. Europ. J. Hum. Genet. 23: 1427-1430, 2015. [PubMed: 25585697, | ||||||
| Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Walsh, M., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. J., Shcherbii, M., and 17 others. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain 140: 2093-2103, 2017. | ||||||
| Yogev, Y., Shorer, Z., Koifman, A., Wormser, O., Drabkin, M., Halperin, D., Dolgin, V., Proskorovski-Ohayon, R., Hadar, N., Davidov, G., Nudelman, H., Zarivach, R., Shelef, I., Perez, Y., Birk, O. S. Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proc. Nat. | ||||||
| Yoo D.H., Choi Y.C., Nam D.E., Choi S.S., Kim J.W., Choi B.O., et al. Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome. Mitochondrion. 2017 Jul;35:54-58. doi: 10.1016/j.mito.2017.05.005. Epub 2017 May 9. | ||||||
| Yoshida, A., Kobayashi, K., Manya, H., Taniguchi, K., Kano, H., Mizuno, M., Inazu, T., Mitsuhashi, H., Takahashi, S., Takeuchi, M., Herrmann, R., Straub, V., Talim, B., Voit, T., Topaloglu, H., Toda, T., Endo, T. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev. Cell 1: 717-724, 2001. | ||||||
| Young K, Foroud T, Williams P, Jackson CE, Beckmann JS, Cohen D, Conneally PM, Tischfield J, Hodes ME. Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. Genomics. 1992 Aug;13(4):1370-1. | ||||||
| Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Am J Hum Genet. 2022 Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. PMID: 35148830; PMCID: PMC8948162 | ||||||
| Yu, G.-Y.; Howell, M. J.; Roller, M. J.; Xie, T.-D.; Gomez, C. M. : Spinocerebellar ataxia type 26 maps to chromosome 19p13.3 adjacent to SCA6. Ann. Neurol. 57: 349-354, 2005. | ||||||
| Yuan, J., Matsuura, E., Higuchi, Y., Hashiguchi, A., Nakamura, T., Nozuma, S., Sakiyama, Y., Yoshimura, A., Izumo, S., Takashima, H. Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology 80: 1641-1649, 2013. | ||||||
| Yuen, M., Sandaradura, S. A., Dowling, J. J., Kostyukova, A. S., Moroz, N., Quinlan, K. G., Lehtokari, V.-L., Ravenscroft, G., Todd, E. J., Ceyhan-Birsoy, O., Gokhin, D. S., Maluenda, J., and 45 others. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J. Clin. Invest. 124: 4693-4708, 2014. | ||||||
| Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. PubMed PMID: 26700687; PubMed Central PMCID: PMC4766374. | ||||||
| Zaharieva, I. T., Thor, M. G., Oates, E. C., van Karnebeek, C., Hendson, G., Blom, E., Witting, N., Rasmussen, M., Gabbett, M. T., Ravenscroft, G., Sframeli, M., Suetterlin, K., and 28 others. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy. Brain 139: 674-691, 2016. [PubMed: 26700687, images, related citations] [Full Text] | ||||||
| Zambon AA, Lemaigre A, Phadke R, Grunewald S, Sewry C, Sarkozy A, Clement E, Muntoni F; Genomics England Research Consortium. Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects. Neuromuscul Disord. 2021 Mar;31(3):212-217. doi: 10.1016/j.nmd.2020.12.009. Epub 2021 Jan 6. PMID: 33454187 | ||||||
| Zeharia, A., Shaag, A., Houtkooper, R. H., Hindi, T., de Lonlay, P., Erez, G., Hubert, L., Saada, A., de Keyzer, Y., Eshel, G., Vaz, F. M., Pines, O., Elpeleg, O. Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood. Am. J. Hum. Genet. 83: 489-494, 2008. Note: Erratum: Am. J. Hum. Genet. 84: 95 only, 2009. | ||||||
| Zeng YH, Yang K, Du GQ, Chen YK, Cao CY, Qiu YS, He J, Lv HD, Qu QQ, Chen JN, Xu GR, Chen L, Zheng FZ, Zhao M, Lin MT, Chen WJ, Hu J, Wang ZQ, Wang N. GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy. Ann Neurol. 2022 Sep;92(3):512-526. doi: 10.1002/ana.26436. Epub 2022 Jul 2. PMID: 35700120. | ||||||
| Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M and Shanahan CM. Nesprin-1 and -2 are involved in the pathogenesis of Emery-Dreifuss Muscular Dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007 | ||||||
| Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Browell AK, MacLennan DH. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993 Sep;5(1):46-50. | ||||||
| Zhang, J.; Kumar, A.; Kaplan, L.; Fricker, F. J.; Wallace, M. R.Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (Letter) J. Med. Genet. 42: 663-665, 2005. | ||||||
| Zhang, L., Joshi, A. K., Smith, S. Cloning, expression, characterization, and interaction of two components of a human mitochondrial fatty acid synthase: malonyltransferase and acyl carrier protein. J. Biol. Chem. 278: 40067-40074, 2003. | ||||||
| Zhang, X. Y., Wen, J., Yang, W., Wang, C., Gao, L., Zheng, L. H., Wang, T., Ran, K., Li, Y., Li, X., Xu, M., Luo, J., Feng, S., Ma, X., Ma, H., Chai, Z., Zhou, Z., Yao, J., Zhang, X., Liu, J. Y. Gain-of-function mutations in SCN11A cause familial episodic pain. Am. J. Hum. Genet. 93: 957-966, 2013. | ||||||
| Zhang, X., Chen, S., Yoo, S., Chakrabarti, S., Zhang, T., Ke, T., Oberti, C., Yong, S. L., Fang, F., Li, L., de la Fuente, R., Wang, L., Chen, Q., Wang, Q. K. Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135: 1017-1027, 2008. | ||||||
| Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, Van Damme P. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet. 2014 Jun;22(6):847-50. doi: 10.1038/ejhg.2013.231. Epub 2013 Oct 9. | ||||||
| Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H. Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy. Neurology. 2012 May 22;78(21):1644-9. Epub 2012 May 9. | ||||||
| Zhao, G., Hu, Z., Shen, L., Jiang, H., Ren, Z., Liu, X., Xia, K., Guo, P., Pan, Q., Tang, B. A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. Chin. Med. J. 121: 430-434, 2008. | ||||||
| Zhou H, Lian C, Wang T, Yang X, Xu C, Su D, Zheng S, Huang X, Liao Z, Zhou T, Qiu X, Chen Y, Gao B, Li Y, Wang X, You G, Fu Q, Gurnett C, Huang D, Su P. MET mutation causes muscular dysplasia and arthrogryposis. EMBO Mol Med. 2019 Mar;11(3). pii: e9709. doi: 10.15252/emmm.201809709. | ||||||
| Zhou, J., Tawk, M., Tiziano, F. D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., Renda, Y., Carpentier, S., Andrieu-Abadie, N., Gut, I., Levade, T., Topaloglu, H., Melki, J. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am. J. Hum. Genet. 91: 5-14, 2012. | ||||||
| Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. | ||||||
| Zimon, M., Baets, J., Almeida-Souza, L., De Vriendt, E., Nikodinovic, J., Parman, Y., Battaloglu, G., Matur, Z., Guergueltcheva, V., Tournev, I., Auer-Grumbach, M., De Rijk, P., and 25 others. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nature Genet. 44: 1080-1083, 2012. | ||||||
| Zimprich, A.; Grabowski, M.; Asmus, F.; Naumann, M.; Berg, D.; Bertram, M.; Scheidtmann, K.; Kern, P.; Winkelmann, J.; Muller-Myhsok, B.; Riedel, L.; Bauer, M.; Muller, T.; Castro, M.; Meitinger, T.; Strom, T. M.; Gasser, T. : Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. Nature Genet. 29: 66-69, 2001. | ||||||
| Zivony-Elboum, Y., Westbroek, W., Kfir, N., Savitzki, D., Shoval, Y., Bloom, A., Rod, R., Khayat, M., Gross, B., Samri, W., Cohen, H., Sonkin, V., Freidman, T., Geiger, D., Fattal-Valevski, A., Anikster, Y., Waters, A. M., Kleta, R., Falik-Zaccai, T. C. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J. Med. Genet. 49: 462-472, 2012. | ||||||
| Zoghbi HY, Jodice C, Sandkuijl LA, Kwiatkowski TJ Jr, McCall AE, Huntoon SA, Lulli P, Spadaro M, Litt M, Cann HM, et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am J Hum Genet. 1991 Jul;49(1):23-30. | ||||||
| Zortea, M.; Vettori, A.; Trevisan, C. P.; Bellini, S.; Vazza, G.; Armani, M.; Simonati, A.; Mostacciuolo, M. L. : Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J. Med. Genet. 39: 387-390, 2002. | ||||||
| Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., Meier, M., Stetefeld, J., Hicks, D., Straub, V., Voermans, N. C., Birk, D. E., Barton, E. R., Koch, M., Bonnemann, C. G. Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. Hum. Molec. Genet. 23: 2339-2352, 2014. | ||||||
| Zu L, Figueroa KP, Grewal R, Pulst SM. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. Am J Hum Genet. 1999 Feb;64(2):594-9. | ||||||
| Zuchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet. 2005 Mar;37(3):289-94. Epub 2005 Jan 30. | ||||||
| Zuchner, S., De Jonghe, P., Jordanova, A., Claeys, K. G., Guergueltcheva, V., Cherninkova, S., Hamilton, S. R., Van Stavern, G., Krajewski, K. M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C. T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J. M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann. Neurol. 59: 276-281, 2006. | ||||||
| Zuchner, S.; Kail, M. E.; Nance, M. A.; Gaskell, P. C.; Svenson, I. K.; Marchuk, D. A.; Pericak-Vance, M. A.; Ashley-Koch, A. E. : A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. (Letter) Neurogenetics 7: 127-129, 2006(a). | ||||||
| Zuchner, S.; Mersiyanova, I. V.; Muglia, M.; Bissar-Tadmouri, N.; Rochelle, J.; Dadali, E. L.; Zappia, M.; Nelis, E.; Patitucci, A.; Senderek, J.; Parman, Y.; Evgrafov, O.; and 10 others : Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genet. 36: 449-451, 2004. Note: Corrigendum: Nature Genet. 36: 660 only, 2004. | ||||||
| Zuchner, S.; Wang, G.; Tran-Viet, K.-N.; Nance, M. A.; Gaskell, P. C.; Vance, J. M.; Ashley-Koch, A. E.; Pericak-Vance, M. A. : Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am. J. Hum. Genet. 79: 365-369, 2006.(b) | ||||||
| Zuhlke, C.; Hellenbroich, Y.; Dalski, A.; Kononowa, N.; Hagenah, J.; Vieregge, P.; Riess, O.; Klein, C.; Schwinger, E. : Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia. Europ. J. Hum. Genet. 9: 160-164, 2001. |
