Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CAPN3

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CAPN3

Definition : Molecular assay reagents intended to identify mutations in the calpain 3 (CAPN3) gene, located at chromosome 15q15.1-q21.1, which encodes for a muscle-specific calpain, a calcium-activated, neutral proteinase. Mutations at this locus have been identified in patients with limb-girdle muscular dystrophy type 2A (calpainopathy).

Entry Terms : "Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutation Detection Reagents" , "Limb-Girdle Muscular Dystrophy Type 2A Gene Mutation Detection Reagents" , "Calpainopathy Gene Mutation Detection Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "CAPN3 Gene Mutation Detection Reagents" , "IVD Test Reagent/Kits, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CAPN3"

UMDC code : 24327

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