IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, SGCE
Definition : Molecular assay reagents intended to identify mutations in the sarcoglycan, epsilon (SGCE) gene, located at chromosome 7q21, 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 myoclonus dystonia (dystonia type 11, DYT11).
Entry Terms : "Hereditary Essential Myoclonus Gene Mutation Reagents" , "Myoclonus Dystonia Gene Mutation Reagents" , "Dystonia Type 11 (DYT11) Gene Mutation Reagents" , "SGCE Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, SGCE"
UMDC code : 24959