5. OTHER MYOPATHIES (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Myofibrillar myopathy, alpha-B crystallin related - (AD)
5.1
Selcen, D.; Engel, A. G. Myofibrillar myopathy caused by novel dominant negative alpha-B-crystallin mutations. Ann. Neurol. 54: 804-810, 2003. (14681890)
CRYAB (11q22.3-q23.1)
Crystallin, alpha B
Myofibrillar myopathy, desmin-related myopathy - (AD)
5.2
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)
DES (2q35)
Desmin
Desmin-related myopathy with Mallory bodies - (AD)
5.3
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)
SEPN1 (1p36.13)
Selenoprotein N1
Myopathy myofibrillar - (AD)
5.4
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)
LDB3 (10q22)
LIM domain binding 3
Myofibrillar myopathy with arrythmogenic right ventricular cardiomyopathy - (AD)
5.5
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, Nürnberg G, Nürnberg 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)
? - (10q22)
Myopathy myofibrillar - (AD)
5.6
Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. (15111675)
MYOT (5q31)
Myotilin
Spheroid body myopathy - (AD)
5.7
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)
MYOT (5q31)
Myotilin
Myofibrillar myopathy, filamin-C related - (AD)
5.8
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)
FLNC (7q32)
Filamin C, gamma (actin-binding protein - 280)
Myofibrillar myopathy with BAG3 defect - (AD)
5.9
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)
BAG3 (10q25.2-q26.2)
BCL2-associated athanogene 3
Cardiac and skeletal aggregate myopathy - (Digenic)
5.10
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)
TRIM54 (2p.23.3)
Tripartite motif-containing 54
TRIM63 (1p36.11)
Tripartite motif containing 63, E3 ubiquitin protein ligase
Myopathy microfibrillar type 7 - (AR)
5.11
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)
KY (3q22.2)
Kyphoscoliosis peptidase
Danon disease - (XD)
5.12
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)
LAMP2 (Xq24)
Lysosomal-associated membrane protein 2 precursor
Myopathy with excessive autophagia - (XR)
5.13
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 (Xq28)
VMA21 Vacuolar H+-ATPase Homolog (S. Cerevisiae)
Autophagic vacuolar myopathy - (AR)
5.14
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)
CLN3 (16p11.2)
Ceroid-lipofuscinosis, neuronal 3 (=battenin)
Oculopharyngeal muscular dystrophy - (AD)
5.15
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)
PABPN1 (14q11.2-q13)
Poly(A) binding protein, nuclear 1
Autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement (Edstrom myopathy) - (AD)
5.16
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)
TTN (2q31)
Titin
Epidermolysis bullosa simplex associated with late-onset muscular dystrophy - (AR)
5.17
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)
PLEC (8q24.3)
plectin
Muscle hypertrophy - (AR)
5.18
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)
MSTN (2q32.2)
Myostatin
Fibrodysplasia ossificans progressiva - (AD)
5.19
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)
ACVR1 (2q23-q24)
Activin A receptor, type II-like kinase 2
Hyperckemia, idiopathic - (AD)
5.20
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 )
CAV3 (3p25)
Caveolin 3
X-linked myopathy with postural muscle atrophy - (XR)
5.21
Windpassinger C, Schoser B, Straub V, Hochmeister S, Noor A, Lohberger B, Farra N, Petek E, Schwarzbraun T, Ofner L, Löscher WN, Wagner K, Lochmüller 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)
FHL1 (Xq26.3)
Four and a half LIM domain 1
Scapuloperoneal myopathy - (XD)
5.22
Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño 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)
FHL1 (Xq26.3)
Four and a half LIM domain 1
Reducing body myopathy - (XD)
5.23
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)
FHL1 (Xq26.3)
Four and a half LIM domain 1
Episodic muscle weakness, X-linked - (XR)
5.24
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)
? - (Xp22.3)
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia - (AD)
5.25
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)
VCP (9p13-p12)
Valosin-containing protein
Myopathy with exercise intolerance, Swedish type - (AR)
5.26
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)
ISCU (12q24.1)
Iron-sulfur cluster scaffold homolog (E. coli)
Late onset axial myopathy related to RYR1 - (AD)
5.27
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)
RYR1 (19q13.1)
Ryanodine receptor 1 (skeletal)
Early-onset myofibrillar myopathy with PYRODX1 defect - (AR)
5.28
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)
PYRODX1 (12p12.1)
Pyridine nucleotidedisulphide oxidoreductase domain 1