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  • 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).
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