DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Mutations in the dysferlin gene cause a spectrum of adult-onset progressive muscular dystrophies including Limb Girdle Muscular Dystrophy type 2B (LGMD2B, MIM#253601), Myoshi Myopathy (MM, MIM#254130), and Distal Anterior Compartment Myopathy (DACM, MIM#606768), commonly referred to as dysferlinopathies.[3]–[5] There is no clear genotype-phenotype correlation and the ∼150 described mutations cover the complete open reading frame.