IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, RYR1
Definition : Molecular assay reagents intended to identify mutations in the ryanodine receptor 1 (skeletal) (RYR1) gene, located at chromosome 19q13.1, which encodes for a receptor found in skeletal muscle. The encoded protein functions as a calcium-release channel. Inherited genetic mutations are associated with congenital myopathies, including central core disease (CCD) and multiminicore diseases (MmD); mutations are also associated with malignant hyperthermia (MH) susceptibility.
Entry Terms : "Malignant Hyperthermia Susceptibility (MHS) Gene Mutation Reagents" , "Multicore Myopathy Gene Mutation Reagents" , "Multicore Disease Gene Mutation Reagents" , "Multiminicore Disease (MmD) Gene Mutation Reagents" , "Central Core Disease (CCD) Gene Mutation Reagents" , "RYR1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, RYR1"
UMDC code : 24946