Dysferlinopathies are a family of autosomal recessive muscular disorders caused by mutations in the dysferlin gene (DYSF) and include the following diseases: Limb-girdle muscular dystrophy type 2B (LGMD2B; MIM #253601), Miyoshi myopathy (MM; MIM #254130), and distal myopathy anterior tibial onset (DMAT; OMIM #606768). The gene discussed is DYSF; the disease is autosomal recessive limb-girdle muscular dystrophy type 2B.