DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Mutations in DYSF cause Dysferlinopathies, a group of muscular dystrophies composed of LGMDR2 (formerly LGMD2B; OMIM: 253601), Miyoshi Muscular Dystrophy 1 (MMD1; OMIM: 254130) and Myopathy, Distal, With Anterior Tibial Onset (DMAT; OMIM: 606768).