DES and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Classically, two phenotypes are representative of dysferlinopathy: a distribution pattern involving scapular and pelvic girdle muscles, previously described as limb-girdle muscular dystrophy (LGMD2B; MIM#253601) [4] and currently reclassified as LGMD2R dysferlin-related [5], and Miyoshi Myopathy Type 1 (MMD1; MIM#254130), involving the posterior region of the legs, which can also be caused by biallelic mutations in the ANO5 gene (MMD3; MIM#613319).