Mutations in the gene encoding dysferlin (DYSF; MIM# 603009, 2p13, GenBank NM_003494.2) cause primary dysferlinopathies, which are autosomal recessive muscular dystrophies. DYSF has a large mutational...
Genet. Test. Mol. Biomark. - issue: 1 - volume: 14 - pages: 153-154.