DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: In the ClinVar database, there are 719 hereditary mutations in the DYSF gene that have been classified as either pathogenic or likely pathogenic [25] and that can cause a dysferlinopathy, such as Miyoshi Myopathy type 1 (MMD1) and Limb–Girdle Muscular Dystrophy type 2B (LGMD2B), now called Limb–Girdle Muscular Dystrophy R2 dysferlin-related (LGMDR2) [4,26].