Variant: rs104894422 

    present in Gene: LOC107984585;SGCG
    present in Chromosome: 13
    Position on Chromosome: 23324513
    Alleles of this Variant: G/A

rs104894422 in LOC107984585;SGCG gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 20345928 2010 C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy.

PMID 22095924 2012 Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.

PMID 10714584 2000 Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

PMID 14981741 2004 Specific assembly pathway of sarcoglycans is dependent on beta- and delta-sarcoglycan.

PMID 9658457 1998 To describe the clinicopathological and the genetic findings of eleven cases from a Spanish gypsy family with LGMD2C and the mutation C283Y.

PMID 8968757 1996 A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India.

PMID 30345904 2018 Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.

PMID 9781048 1998 The clinical severity of all patients demonstrates that the C283Y missense mutation in a homozygous state causes a severe LGMD2C (DMD-like).