Reference table (All references)
References |
| PubMed Id | |||
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| Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28. | |||||
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| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
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| 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. | |||||
| 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. | |||||
| 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] | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| Nishino, I., Spinazzola, A., Hirano, M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692, 1999. | |||||
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| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
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| 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. | |||||
| 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. | |||||
| 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. | |||||
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| 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. | |||||
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| 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. | |||||
| 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. | |||||
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| 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 | |||||
| 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. | |||||
| 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. | |||||
| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| 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. | |||||
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| 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. | |||||
| 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 | |||||
| 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. | |||||
| 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. | |||||
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| 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 | |||||
| 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. | |||||
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| 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, | |||||
| 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 | |||||
| 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 | |||||
| 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 | |||||
| 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. | |||||
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| 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. | |||||
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| 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. | |||||
| 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, | |||||
| 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. | |||||
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| 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. | |||||
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| 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 | |||||
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| 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, | |||||
| 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 | |||||
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