> Reagents, Molecular Assay, Gene Anomaly, Mutation, DMD
Reagents, Molecular Assay, Gene Anomaly, Mutation, DMD
Definition : Molecular assay reagents intended to identify mutations in the dystrophin (muscular dystrophy, Duchenne and Becker types) (DMD) gene, located at chromosome Xp21.2, which encodes for the protein dystrophin, part of a protein complex that strengthens muscle fibers and protects them from injury as the muscle contracts and relaxes. Mutations at this locus have been identified in patients with several types of skeletal muscle dysfunctions; the two main types are Duchenne muscular dystrophy (DMD) and a somewhat milder disease known as Becker muscular dystrophy (BMD).
Entry Terms : "Distrophinopathy Gene Mutation Detection Reagents" , "Becker Muscular Dystrophy (BMD) Gene Mutation Detection Reagents" , "Duchenne Muscular Dystrophy (DMD) Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutations" , "Muscular Dystrophy Diagnostic Reagents" , "DMD Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Muscular Dystrophy Determination Reagents"
UMDC code : 24384
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