IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SGCD
Definition : Molecular assay reagents intended to identify mutations in the sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD) gene, located at chromosome 5q33-q34, which encodes for part of a multisubunit protein complex that forms a link between the F-actin cytoskeleton and the extracellular matrix. The protein encoded by this gene is expressed most often in skeletal and cardiac muscle. This genetic mutation has been identified in patients with dilated cardiomyopathy type 1L and muscular dystrophy, limb-girdle type 2F.
Entry Terms : "Delta-Sarcoglycanopathy Gene Mutation Reagents" , "Limb Girdle Muscular Dystrophy Type 2F (LGMD2F) Gene Mutation Reagents" , "Sarcoglycanopathy Gene Mutation Reagents" , "SGCD Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SGCD"
UMDC code : 24958