> Reagents, Molecular Assay, Gene Anomaly, Mutation, DYSF
Reagents, Molecular Assay, Gene Anomaly, Mutation, DYSF
Definition : Molecular assay reagents intended to identify mutations in the dysferlin (DYSF) gene, located at chromosome 2p13.3-p13.1, which encodes for a skeletal muscle protein belonging to the ferlin family that is associated with sarcolemma and involved with muscle contraction. Mutations at this locus have been identified in patients with early-onset dysferlinopathy (dysferlin deficiency dystrophy) and limb-girdle muscular dystrophy type 2B (LGMD2B).
Entry Terms : "Dysgerin Deficiency Dystrophy Gene Mutation Detection Reagents" , "Miyoshi Distal Myopathy Gene Mutation Detection Reagents" , "Limb Girdle Muscular Dystrophy Type 2B (LGMD2B) Gene Mutation Detection Reagents" , "Dysferlinopathy Gene Mutation Detection Reagents" , "Muscular Dystrophy Gene Mutation Detection Reagents" , "Muscular Dystrophy Diagnostic Reagents" , "DYSF Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Inborn Disorder, Monogenic, Muscular Dystrophy" , "Muscular Dystrophy Determination Reagents"
UMDC code : 24386
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