Table 1.

Genes associated with muscular dystrophies

Disease Inheritance Gene Protein References 
DMD, Becker muscular dystrophy XR DMD Dystrophin Monaco et al., 1986; Burghes et al., 1987  
Emery-Dreifuss muscular dystrophy XR EMD Emerin Bione et al., 1994; 
 XR FHL1 Four and a half LIM domains 1 Gueneau et al., 2009  
 AD/AR LMNA Lamin A/C Bonne et al., 1999  
LGMD1A AD MYOT Myotilin Hauser et al., 2000  
LGMD1B AD LMNA Lamin A/C Muchir et al., 2000  
LGMD1C AD CAV3 Caveolin-3 Minetti et al., 1998  
LGMD1D AD DES Desmin Greenberg et al., 2012  
LGMD1E AD DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 Sarparanta et al., 2012  
LGMD2A AR CAPN3 Calpain 3 Richard et al., 1995  
LGMD2B, Miyoshi myopathy, distal anterior compartment myopathy AR DYSF Dysferlin Bashir et al., 1998; Liu et al., 1998  
LGMD2C AR SGCG γ-Sarcoglycan Noguchi et al., 1995  
LGMD2D AR SGCA α-Sarcoglycan Roberds et al., 1994  
LGMD2E AR SGCB β-Sarcoglycan Bönnemann et al., 1995; Lim et al., 1995  
LGMD2F AR SGCD δ-Sarcoglycan Nigro et al., 1996  
LGMD2G AR TCAP Titin-cap Moreira et al., 2000  
LGMD2H AR TRIM32 Tripartite motif containing 32 Frosk et al., 2002  
LGMD2J AR TTN Titin Hackman et al., 2002  
Tibial MD AD    
LGMD2L AR ANO5 Anoctamin 5 Bolduc et al., 2010  
LGMD2Q AR PLEC Plectin Gundesli et al., 2010  
MDDGA1, MDDGC1 (LGMD2K)a AR POMT1 Protein-O-mannosyltransferase 1 Beltrán-Valero de Bernabe et al., 2002  
MDDGA2, MDDGC2 (LGMD2N) AR POMT2 Protein-O-mannosyltransferase 2 van Reeuwijk et al., 2005  
MDDGA3, MDDGC3 (LGMD2O) AR POMGNT1 Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase Yoshida et al., 2001  
MDDGA4, MDDGC4 (LGMD2M) AR FKTN Fukutin Kobayashi et al., 1998  
MDDGA5, MDDGC5 (LGMD2I) AR FKRP Fukutin related protein Brockington et al., 2001  
MDDGA6 AR LARGE like-glycosyltransferase Longman et al., 2003  
MDDGA7 AR ISPD Isoprenoid synthase domain containing Roscioli et al., 2012; Willer et al., 2012  
MDDGA8 AR GTDC2 Glycosyltransferase-like domain containing 2 Manzini et al., 2012  
MDDGA AR B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 Buysse et al., 2013  
MDDGA AR B3GALNT2 β-1,3-N-acetylgalactosaminyltransferase 2 Stevens et al., 2013  
MDDGC9 (LGMD) AR DAG1 Dystroglycan Hara et al., 2011  
DM1 AD DMPK CTGexp in 3′ UTR Brook et al., 1992; Fu et al., 1992; Mahadevan et al., 1992  
DM2 AD CNBP CCTGexp in intron 1 Liquori et al., 2001  
FSHD1 AD DUX4 Double homeobox 4 Kowaljow et al., 2007; Lemmers et al., 2010  
FSHD2 AD, Digenic DUX4, SMCHD1 Double homeobox 4, structural maintenance of chromosomes flexible hinge domain containing 1 Lemmers et al., 2012  
Disease Inheritance Gene Protein References 
DMD, Becker muscular dystrophy XR DMD Dystrophin Monaco et al., 1986; Burghes et al., 1987  
Emery-Dreifuss muscular dystrophy XR EMD Emerin Bione et al., 1994; 
 XR FHL1 Four and a half LIM domains 1 Gueneau et al., 2009  
 AD/AR LMNA Lamin A/C Bonne et al., 1999  
LGMD1A AD MYOT Myotilin Hauser et al., 2000  
LGMD1B AD LMNA Lamin A/C Muchir et al., 2000  
LGMD1C AD CAV3 Caveolin-3 Minetti et al., 1998  
LGMD1D AD DES Desmin Greenberg et al., 2012  
LGMD1E AD DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6 Sarparanta et al., 2012  
LGMD2A AR CAPN3 Calpain 3 Richard et al., 1995  
LGMD2B, Miyoshi myopathy, distal anterior compartment myopathy AR DYSF Dysferlin Bashir et al., 1998; Liu et al., 1998  
LGMD2C AR SGCG γ-Sarcoglycan Noguchi et al., 1995  
LGMD2D AR SGCA α-Sarcoglycan Roberds et al., 1994  
LGMD2E AR SGCB β-Sarcoglycan Bönnemann et al., 1995; Lim et al., 1995  
LGMD2F AR SGCD δ-Sarcoglycan Nigro et al., 1996  
LGMD2G AR TCAP Titin-cap Moreira et al., 2000  
LGMD2H AR TRIM32 Tripartite motif containing 32 Frosk et al., 2002  
LGMD2J AR TTN Titin Hackman et al., 2002  
Tibial MD AD    
LGMD2L AR ANO5 Anoctamin 5 Bolduc et al., 2010  
LGMD2Q AR PLEC Plectin Gundesli et al., 2010  
MDDGA1, MDDGC1 (LGMD2K)a AR POMT1 Protein-O-mannosyltransferase 1 Beltrán-Valero de Bernabe et al., 2002  
MDDGA2, MDDGC2 (LGMD2N) AR POMT2 Protein-O-mannosyltransferase 2 van Reeuwijk et al., 2005  
MDDGA3, MDDGC3 (LGMD2O) AR POMGNT1 Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase Yoshida et al., 2001  
MDDGA4, MDDGC4 (LGMD2M) AR FKTN Fukutin Kobayashi et al., 1998  
MDDGA5, MDDGC5 (LGMD2I) AR FKRP Fukutin related protein Brockington et al., 2001  
MDDGA6 AR LARGE like-glycosyltransferase Longman et al., 2003  
MDDGA7 AR ISPD Isoprenoid synthase domain containing Roscioli et al., 2012; Willer et al., 2012  
MDDGA8 AR GTDC2 Glycosyltransferase-like domain containing 2 Manzini et al., 2012  
MDDGA AR B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 Buysse et al., 2013  
MDDGA AR B3GALNT2 β-1,3-N-acetylgalactosaminyltransferase 2 Stevens et al., 2013  
MDDGC9 (LGMD) AR DAG1 Dystroglycan Hara et al., 2011  
DM1 AD DMPK CTGexp in 3′ UTR Brook et al., 1992; Fu et al., 1992; Mahadevan et al., 1992  
DM2 AD CNBP CCTGexp in intron 1 Liquori et al., 2001  
FSHD1 AD DUX4 Double homeobox 4 Kowaljow et al., 2007; Lemmers et al., 2010  
FSHD2 AD, Digenic DUX4, SMCHD1 Double homeobox 4, structural maintenance of chromosomes flexible hinge domain containing 1 Lemmers et al., 2012  

AD, autosomal dominant; AR, autosomal recessive; XR, X-linked recessive; LGMD, limb-girdle muscular dystrophy (LGMD1, autosomal dominant; LGMD2, autosomal recessive); MDDG, muscular dystrophy-dystroglycanopathy; DM, myotonic dystrophy; FSHD, facioscapulohumeral muscular dystrophy; exp, expansion.

a

Alternative or previous nomenclature is provided in parentheses.

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