Condition: CARDIOMYOPATHY, DILATED, 1L
rs1175344271 in
SGCD gene and
CARDIOMYOPATHY, DILATED, 1L
PMID 16524571 2006 Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.
PMID 10735275 1997 Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2).
PMID 19770540 2009 Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
PMID 10974018 2000 Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy.