SGCA

Gene name: sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
OMIM ID: 600119
Chromosome location: 17q21.33

Mutations

Disease/Phenotype	Muscular dystrophy, limb-girdle, type 2D
DNA Change	insertion of 8bp
A.A. Change	Frameshift
Exon/Intron	exon 5
Mutation Type	insertion
Reference	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.

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  Variant not named according to HGVS recommendations