IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SGCB
Definition : Molecular assay reagents intended to identify mutations in the sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) (SGCB) gene, located at chromosome 4q12, which encodes for a member of a multisubunit protein complex that provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. This inherited genetic mutation has been identified in patients with limb-girdle muscular dystrophy type 2E.
Entry Terms : "Beta-Sarcoglycanopathy Gene Mutation Reagents" , "Limb Girdle Muscular Dystrophy Type 2E (LGMD2E) Gene Mutation Reagents" , "Sarcoglycanopathy Gene Mutation Reagents" , "SGCB Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SGCB"
UMDC code : 24957