Disease phenotype | Item in this table | References | Gene symbol (chromosome)
protein |
| Myofibrillar myopathy 1 - (AD) | 5.1 | | 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. (9697706) |
| |
| Myofibrillar myopathy 2 - (AD) | 5.2 | | Selcen, D.; Engel, A. G. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann. Neurol. 54: 804-810, 2003. (14681890) |
| |
| Myofibrillar myopathy 3 - (AD) | 5.3 | | Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. (15111675) |
| |
| Spheroid body myopathy - (AD) | 5.4 | | 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. (16380616) |
| |
| Myofibrillar myopathy 4 - (AD) | 5.5 | | Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol. 2005 Feb;57(2):269-76. (15668942) |
| |
| Myofibrillar myopathy 5 - (AD, AR) | 5.6 | | 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. (15929027) | | 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 (32516863) | | 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 (32887649) |
| | Filamin C, gamma (actin-binding protein - 280)
|
|
|
| Myofibrillar myopathy 6 - (AD) | 5.7 | | 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. (19085932) |
| | BCL2-associated athanogene 3
|
|
|
| Myofibrillar myopathy 7 - (AR) | 5.8 | | 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. (27484770) | | 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. (27485408) |
| |
| Myofibrillar myopathy 8 - (AR) | 5.9 | | 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. (27745833) |
| | Pyridine nucleotidedisulphide oxidoreductase domain 1
|
|
|
| Myofibrillar myopathy 9 with early respiratory failure - (AD) | 5.10 | | 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. (10053013) | | 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. (15802564) |
| |
| Myofibrillar myopathy 10 - (AR) | 5.11 | | 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. (32779703) |
| |
| Myofibrillar myopathy 11 - (AR) | 5.12 | | 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 (31852522) |
| |
| Desmin-related myopathy with Mallory bodies - (AD) | 5.13 | | 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. (15122708) |
| |
| Cardiac and skeletal aggregate myopathy - (Digenic) | 5.14 | | 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. (26345447) |
| | Tripartite motif-containing 54
|
| | Tripartite motif containing 63, E3 ubiquitin protein ligase
|
|
|
| Myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARCV7) - (AD) | 5.15 | | 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. (10553984) | | 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. (18197198) | | 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. (22395865) |
| |
| Congenital myopathy 21 with early respiratory failure - (AR) | 5.16 | | 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 (36264506) |
| | DNAJ/HSP40 homolog, subfamily B, member 4
|
|
|
| Myofibrillar myopathy related to FILIP1 - (AR) | 5.17 | | 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. (37163662) |
| | Filamin A-interacting protein 1
|
|
|
| Danon disease - (XD) | 5.18 | | 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. (15907287) |
| | Lysosomal-associated membrane protein 2 precursor
|
|
|
| Myopathy with excessive autophagia - (XR) | 5.19 | | 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. (10757644) | | 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. (24488655) | | 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. (2892402) | | 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. (23315026) | | 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. (12196656) |
| | VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
|
|
|
| Autophagic vacuolar myopathy - (AR) | 5.20 | | 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. (24827497) |
| | Ceroid-lipofuscinosis, neuronal 3 (=battenin)
|
|
|
| Oculopharyngeal muscular dystrophy - (AD) | 5.21 | | 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. (7795598) | | 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]. (9462747) |
| | Poly(A) binding protein, nuclear 1
|
|
|
| Oculopharyngodistal myopathy 1 - (AD) | 5.22 | | 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 (31332380) |
| | Low density lipoprotein receptor-related protein 12
|
|
|
| Oculopharyngodistal myopathy 2 - (AD) | 5.23 | | 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. (32413282) |
| | GIPC PDZ Domain-containing family, member 1
|
|
|
| Oculopharyngodistal myopathy 3 - (AD) | 5.24 | | 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. (33239111) |
| | Notch2 N-terminal-like protein
|
|
|
| Oculopharyngodistal myopathy 4 - (AD) | 5.25 | | 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 (35148830) | | 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. (35700120) |
| | Rab-interacting lysosomal protein-like 1
|
|
|
| Oculopharyngeal muscular dystrophy related to HNRNPA2B1 - (AD) | 5.26 | | 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. (35484142) |
| | Hetergeneous nuclear ribonucleoprotein A2/B1
|
|
|
| Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR) | 5.27 | | 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. (8636409) | | 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. (8696340) |
| |
| Muscle hypertrophy - (AR) | 5.28 | | 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. (15215484) |
| |
| Fibrodysplasia ossificans progressiva - (AD) | 5.29 | | 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 (16642017) |
| | Activin A receptor, type II-like kinase 2
|
|
|
| Creatine phosphokinase, elevated serum (formerly HyperCKemia, iodiopathic) - (AD) | 5.30 | | 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. (10746614 ) |
| |
| X-linked myopathy with postural muscle atrophy - (XR) | 5.31 | | 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. (18179888) |
| | Four and a half LIM domain 1
|
|
|
| Scapuloperoneal myopathy - (XD) | 5.32 | | 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. (18179901) |
| | Four and a half LIM domain 1
|
|
|
| Reducing body myopathy (1A and 1B) - (XD) | 5.33 | | 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. (18274675) | | 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. (18952429) |
| | Four and a half LIM domain 1
|
|
|
| Episodic muscle weakness, X-linked - (XR) | 5.34 | | 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. (10486330) |
| |
| Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia 1 - (AD) | 5.35 | | 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. (15034582) | | 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. (16247064) |
| | Valosin-containing protein
|
|
|
| Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 - (AD) | 5.36 | | 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. (23455423) |
| | Hetergeneous nuclear ribonucleoprotein A2/B1
|
|
|
| Isolated inclusion body myopathy - (AD) | 5.37 | | 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. (27066560) |
| | Heterogeneous nuclear ribonucleoprotein A1
|
|
|
| Myopathy with lactic acidosis, hereditary - (AR) | 5.38 | | 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. (18304497) |
| | Iron-sulfur cluster scaffold homolog (E. coli)
|
|
|
| Late onset axial myopathy related to RYR1 - (AD) | 5.39 | | 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. (23329375) |
| | Ryanodine receptor 1 (skeletal)
|
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| Tubular aggregate myopathy 1 - (AD) | 5.40 | | 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. (23332920) | | 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. (24570283) | | 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. (24591628) |
| | Stromal interaction molecule 1
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| Tubular aggregate myopathy 2 - (AD) | 5.41 | | 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. (24591628) |
| | ORAI calcium release-activated calcium modulator 1
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| Sarcotubular myopathy - (AR) | 5.42 | | 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. (15786463 ) |
| | Tripartite motif-containing 32
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| Myopathy, sarcoplasmic body - (AD) | 5.43 | | 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. (30918256) |
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| Vacuolar myopathy with CASQ1 aggregates - (AD) | 5.44 | | 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. (25116801) |
| | Calsequestrin 1 (fast-twitch, skeletal muscle)
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| Lysosomal storage myopathy - (AR) | 5.45 | | 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 (33454187) |
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| Myopathy, congenital, With excess of muscle spindles - (AD) | 5.46 | | 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. (28455154) |
| | V-Ha-RAS Harvey Rat Sarcoma Viral
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| Myopathy with extrapyramidal signs - (AR) | 5.47 | | 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 (24336167) |
| | Mitochondrial Calcium Uptake Protein 1
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| Muscle weakness with hyperlaxity, orofacial abnormalities and respiratory infections - (AR) | 5.48 | | 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 (33733462) |
| | Stromal interaction molecule 1
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| Myopathy with myalgia, increased serum creatine kinase and with or without episodic rhabdomyolysis - (AR) | 5.49 | | 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 (34581780) |
| | Muscular LMNA-interacting protein
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| Congenital amyotrophy - (AR) | 5.50 | | 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. (31070086) |
| | Calcium channel, voltage-dependent, T type, aplpha-1H subunit
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| Wieacker-Wolff syndrome - (XLR) | 5.51 | | 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] (1915520) | | 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] (23623388) |
| | Zinc Finger C4H2 domain-containing protein
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