IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, LGMD2B
Definition : Molecular assay reagents intended to identify mutations in the limb-girdle muscular dystrophy 2B (LGMD2B) gene, located at chromosome 2p13.3-p13.1, which encodes for the dysferlin protein that is located in muscle fibers. Mutations at this locus have been identified in patients with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.
Entry Terms : "Miyoshi Myopathy Gene Mutation Reagents" , "Limb Girdle Muscular Dystrophy 2B Gene Mutation Reagents" , "LGMD2B Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, LGMD2B"
UMDC code : 24624