1. MUSCULAR DYSTROPHIES (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Duchenne/Becker Muscular Dystrophies - (XR)
1.1
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. (3773991)
Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28. (3319190)
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. (3607877)
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. (3614347)
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. (3282674)
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. (3285207)
DMD (Xp21.2)
Dystrophin
Emery-Dreifuss muscular dystrophy, X-linked , type 1 - (XR)
1.2
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. (8595433)
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. (3417305)
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. (3466853)
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. (7894480)
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. (8595407)
EMD (Xq28)
Emerin
Emery-Dreifuss muscular dystrophy, X-linked , type 2 - (XR)
1.3
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. (19716112)
FHL1 (Xq26.3)
Four and a half LIM domain 1
Emery-Dreifuss muscular dystrophy, autosomal dominant - (AD)
1.4
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. (10080180)
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. (10739764)
LMNA (1q22)
Lamin A/C
Emery-Dreifuss muscular dystrophy, autosomal recessive - (AR)
1.5
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. (10739764)
LMNA (1q22)
Lamin A/C
Nesprin-1 related muscular dystrophy - (AD)
1.6
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 (17267447)
SYNE1 (6q25)
Spectrin repeat containing, nuclear envelope 1 (nesprin 1)
Nesprin-2 related muscular dystrophy - (AD)
1.7
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 (17267447)
SYNE2 (14q23.2)
Spectrin repeat containing, nuclear envelope 2 (nesprin 2)
LUMA related muscular dystrophy - (AD)
1.8
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. (21391237)
TMEM43 (3p25.1)
Transmembrane protein 43
LAP1B related muscular dystrophy - (AR)
1.9
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. (24856141)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
Facio-scapulo-humeral muscular dystrophy, type 1 - (AD)
1.10
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. (15674778)
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. (16341202)
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. (1642238)
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. (12176321)
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. (1363881)
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. (16632607)
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. (1975852)
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. (1978143)
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. (2037288)
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. (20724583)
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. (7903581)
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. (8111371)
Lemmers RJ, van der Vliet PJ, Klooster R, Sacconi S, Camaño 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. (8268920)
DUX4 (4q35)
Double homeobox 4
1.11
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. (23143600)
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. (21984748)
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. (24075187)
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. (20975055)
SMCHD1 (18p11.32)
Structural maintenance of chromosomes flexible hinge domain containing 1
Muscular dystrophy with generalized lipodystrophy - (AD)
1.12
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. (19726876)
PTRF (17q21-q23)
Polymerase I and transcript release factor
Limb-Girdle, Muscular dystrophy, type 1A - (AD)
1.13
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. (10958653)
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. (1598902)
MYOT (5q31)
Myotilin
Limb-Girdle, Muscular dystrophy, type 1B - (AD)
1.14
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. (9106535)
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. (10814726)
LMNA (1q22)
Lamin A/C
Limb-Girdle, Muscular dystrophy, type 1C - (AD)
1.15
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. (9536092)
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. (9537420)
CAV3 (3p25)
Caveolin 3
Limb-Girdle, Muscular dystrophy, type 1D - (AD)
1.16
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. (22334415)
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. (22366786)
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. (9973293)
DNAJB6 (7q36)
HSP-40 homologue, subfamily B, number 6
Limb-Girdle, Muscular dystrophy, type 1E - (AD)
1.17
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. (22275259)
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. (22395865)
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. (9382102)
DES (2q35)
Desmin
Limb-Girdle, Muscular dystrophy, type 1F - (AD)
1.18
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. (23667635)
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. (12913210)
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. [ (23543484)
TNPO3 (7q32.1-q32.2)
Transportin 3
Limb-Girdle, Muscular dystrophy, type 1G - (AD)
1.19
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. (24647604)
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. (15367920)
HNRNPDL (4q21)
Heterogeneous nuclear ribonucleoprotein D-like
Limb-Girdle, Muscular dystrophy, type 1H - (AD)
1.20
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 (20068593)
? - (3p23-p25)
Limb-Girdle, Muscular dystrophy, type 2A - (AR)
1.21
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. (1901754)
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. (1505977)
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. (7720071)
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. (9150160)
CAPN3 (15q15.1-q21.1)
Calpain 3
Limb-Girdle, Muscular dystrophy, type 2B - (AR)
1.22
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. (8012357)
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. (9731526)
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. (9731527)
DYSF (2p12-14)
Dysferlin
Limb-Girdle, Muscular dystrophy, type 2C - (AR)
1.23
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. (1303286)
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. (8242065)
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. (7481775)
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. (8900232)
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. (8968757)
SGCG (13q12)
Gamma sarcoglycan
Limb-Girdle, Muscular dystrophy, type 2D - (AR)
1.24
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. (8069911)
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. (7663524)
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. (7668821)
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. (8776597)
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. (9192266)
SGCA (17q21)
Alpha sarcoglycan
Limb-Girdle, Muscular dystrophy, type 2E - (AR)
1.25
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. (7581448)
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. (7581449)
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. (8968749)
SGCB (4q12)
Beta sarcoglycan
Limb-Girdle, Muscular dystrophy, type 2F - (AR)
1.26
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. (8776597)
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. (8841194)
SGCD (5q33-q34)
Delta-sarcoglycan
Limb-Girdle, Muscular dystrophy, type 2G - (AR)
1.27
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. (10655062)
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. (9245996)
TCAP (17q12)
Telethonin
Limb-Girdle, Muscular dystrophy, type 2H - (AR)
1.28
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. (11822024)
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. (9634523)
TRIM32 (9q33.2)
Tripartite motif-containing 32
Limb-Girdle, Muscular dystrophy, type 2I - (AR)
1.29
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. (10838249)
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. (11741828)
FKRP (19q13.32)
Fukutin-related protein
Limb-Girdle, Muscular dystrophy, type 2J - (AR)
1.30
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. (12145747)
TTN (2q31)
Titin
Limb-Girdle, Muscular dystrophy, type 2K - (AR)
1.31
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. (15792865)
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 (16717220)
POMT1 (9q34.1)
Protein-O-mannosyltransferase 1
Limb-Girdle, Muscular dystrophy, type 2L - (AR)
1.32
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. (17008331)
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. (20096397)
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) (21186264)
ANO5 (11p14-12)
Anoctamin 5
Limb-Girdle, Muscular dystrophy, type 2M - (AR)
1.33
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 (17036286)
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 (17044012)
FKTN (9q31-q33)
Fukutin
Limb-Girdle, Muscular dystrophy, type 2N - (AR)
1.34
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 (17923109)
POMT2 (14q24.3)
Protein-O-mannosyltransferase 2
Limb-Girdle, Muscular dystrophy, type 2O - (AR)
1.35
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. (17878207)
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. (18195152)
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. (19067344)
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. (22419172)
POMGNT1 (1p34.1)
O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Limb-Girdle, Muscular dystrophy, type 2P - (AR)
1.36
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. (21388311)
DAG1 (3p21)
Dystroglycan1
Limb-Girdle, Muscular dystrophy, type 2Q - (AR)
1.37
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. (21109228)
PLEC (8q24.3)
plectin
Limb-Girdle, Muscular dystrophy, type 2R - (AR)
1.38
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. (23687351)
DES (2q35)
Desmin
Limb-Girdle, Muscular dystrophy, type 2S - (AR)
1.39
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. (23830518)
TRAPPC11 (4q35.1)
trafficking protein particle complex 11
Limb-Girdle, Muscular dystrophy, type 2T - (AR)
1.40
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. (23768512)
GMPPB (3p21.31)
GDP-mannose pyrophosphorylase B
Limb-Girdle, Muscular dystrophy, type 2U - (AR)
1.41
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. (23390185)
ISPD (7p21.2)
Isoprenoid synthase domain containing
Limb-Girdle, Muscular dystrophy, type 2V - (AR)
1.42
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. (24011652)
GAA (17q25.2-q25.3)
Acid alpha-glucosidase preproprotein
Limb-Girdle, Muscular dystrophy, type 2W - (AR)
1.43
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. (25589244)
LIMS2 (2q14.3)
LIM and senescent cell antigen-like domains 2
Limb-Girdle, Muscular dystrophy, type 2X - (AR)
1.44
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. (26642364)
BVES (6q21)
blood vessel epicardial substance
Limb-Girdle, Muscular dystrophy, type 2Y - (AR)
1.45
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. (24856141)
Kayman-Kurekci, G., Korkusuz, P., Dincer, P. Response (to Sewry and Gobel). (Letter) Neuromusc. Disord. 24: 1122 only, 2014. (25193337)
TOR1AIP1 (1q25.2)
Torsin A interacting protein 1
Muscular dystrophy with congenital disorder of glycosylation, type Io - (AR)
1.46
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. (19576565)
DPM3 (1q22)
Dolichyl-phosphate mannosyltransferase polypeptide 3
Scapuloperoneal muscular dystrophy and dropped head syndrome - (AR)
1.47
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. (24838343)
VCP (9p13-p12)
Valosin-containing protein
1.48
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. (25556389)
PLEC (8q24.3)
plectin