Table 1.

Muscular dystrophies (MDs) in which deficits in satellite cell function have been implicated in disease pathology.

Muscular dystrophy	Affected muscles	Mutant gene(s)	Affected protein(s)	Altered SC function	Reference
Duchenne	shoulder, upper limb, diaphragm, and calf	DMD	Dystrophin	Replicative exhaustion; Proliferation; Postnatal myofiber hypotrophy	Blau et al., 1983; Webster and Blau, 1990; Sacco et al., 2010; Jiang et al., 2014; Duddy et al., 2015
Limb girdle:
LGMD1B	upper limb, shoulder,	LMNA	Lamin A/C	Differentiation	Frock et al., 2006
LGMD2A	chest, hip, and upper leg	CAPN3	Calpain 3	Proliferation to differentiation transition	Rosales et al., 2013
LGMD2C		SGCG	γ-Sarcoglycan	Decreased number; Replicative impairment?	Higuchi et al., 1999
LGMD2D		SGCA	α-Sarcoglycan
LGMD2E		SGCB	β-Sarcoglycan
LGMD2F		SGCD	δ-Sarcoglycan
LGMD2H		TRIM32	tripartite motif-containing 32	Replicative senescence	Kudryashova et al., 2012; Mokhonova et al., 2015
LGMD2O		POMGNT1	Protein O-mannose beta-1,2-N-acetylglucos-aminyltransferase	Proliferation	Miyagoe-Suzuki et al., 2009
Emery–Dreifuss:
EGMD2    EGMD3	shoulder, upper limb, and calf	LMNA	Lamin A/C	Differentiation	Favreau et al., 2004; Frock et al., 2006
EGMD1		EMD	Emerin	Proliferation; Differentiation	Frock et al., 2006; Meinke et al., 2015
Facioscapulo-humeral
FSHD1	facial, shoulder, upper arm, foot, and pelvic-girdle	Chrom.4q35 D4Z4 contraction	DUX4	Differentiation; Myoblast toxicity	Kowaljow et al., 2007; Bosnakovski et al., 2008a,b
			DUX4c	Proliferation; Differentiation	Bosnakovski et al., 2008a; Ansseau et al., 2009
			FSHD region gene 1	Proliferation; Differentiation; Fusion	Chen et al., 2011; Feeney et al., 2015
Myotonic dystrophy:
DM1	eyelid, face, neck, lower arms/legs, diaphragm, intercostals	DMPK	Dystophia myotonic protein kinase	Decreased satellite cell numbers Proliferation Replicative senescence	Beffy et al., 2010 Thornell et al., 2009 Bigot et al., 2009
DM2	eyelid, face, neck, upper arms/legs, diaphragm, intercostals	ZNF9	Zinc finger protein 9	Differentiation; Replicative senescence	Malatesta et al., 2011; Beaulieu et al., 2012; Renna et al., 2014
Oculopharyngeal	upper eyelid, EOM, pharynx, tongue, upper arms/legs	PABPN1	Poly adenosine binding protein-nuclear one	Proliferation Differentiation	Périé et al., 2006 Apponi et al., 2010
Congenital MD:
Bethlem    Ullrich	upper and lower arms/legs, neck, lumbar paravertebral, intercostals, thigh, gluteus maximus	COL6A1 COL6A2 COL6A3	Collagen 6A	Self-renewal	Urciuolo et al., 2013; Gattazzo et al., 2014
Rigid spine    syndrome    related to    SEPN1	paravertebral, intercostals, thigh, gluteus maximus	SEPN1	Selenoprotein N	Decreased satellite cell numbers; Proliferation; Exhaustion of satellite cell pool	Castets et al., 2011