Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SGCG

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SGCG

Definition : Molecular assay reagents intended to identify mutations in the sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG) gene, located at chromosome 13q12, which encodes for a member of a multisubunit protein complex necessary for the stability of muscle fiber membranes and to link the actin cytoskeleton to the extracellular matrix. This inherited genetic mutation has been identified in patients with muscular dystrophy, limb-girdle type 2C.

Entry Terms : "Gamma-Sarcoglycanopathy Gene Mutation Reagents" , "Limb Girdle Muscular Dystrophy Type 2C (LGMD2C) Gene Mutation Reagents" , "Sarcoglycanopathy Gene Mutation Reagents" , "SGCG Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SGCG"

UMDC code : 24960

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