Condition: Limb-girdle muscular dystrophy type 2F
rs1175344271 in
SGCD gene and
Limb-girdle muscular dystrophy type 2F
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 9832045 1998 A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.
PMID 17994539 2008 Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
PMID 10838250 2000 A homozygous nonsense mutation in delta-sarcoglycan exon 3 in a case of LGMD2F.
PMID 8841194 1996 Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.