Variant: rs104894423 

    present in Gene: SGCG;LOC107984585
    present in Chromosome: 13
    Position on Chromosome: 23324452
    Alleles of this Variant: G/A

rs104894423 in SGCG;LOC107984585 gene and Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) PMID 16832103 2006 A novel mutation in two families with limb-girdle muscular dystrophy type 2C.

PMID 18285821 2008 Revised spectrum of mutations in sarcoglycanopathies.

PMID 25802879 2015 A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

PMID 24534832 2014 Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.

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

PMID 27708273 2017 The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.