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

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

Definition : Molecular assay reagents intended to identify mutations in the sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA) gene, located at chromosome 17q21, 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 genetic mutation has been identified in patients with Duchenne-like muscular dystrophy type 2.

Entry Terms : "Alpha-Sarcoglycanopathy Gene Mutation Reagents" , "Sarcoglycanopathy Gene Mutation Reagents" , "Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Gene Mutation Reagents" , "Adhalinopathy Gene Mutation Reagents" , "SGCA Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SGCA"

UMDC code : 24956

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