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

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.

^aAlternative or previous nomenclature is provided in parentheses.