?:definition
|
-
Molecular assay reagents intended to identify mutations in the limb-girdle muscular dystrophy 2B (LGMD2B) gene, located at chromosome 2p13.3-p13.1, which encodes for the dysferlin protein that is located in muscle fibers. Mutations at this locus have been identified in patients with limb-girdle muscular dystrophy 2B and Miyoshi myopathy.
|