Dysferlinopathies (LGMD type 2B and Miyoshi myopathy) include autosomal-recessive muscle diseases caused by pathogenic variants in the dysferlin gene (DYSF), characterized by a selective and progressive involvement of the proximal and/or distal muscles of the limb girdles.[7] The age at onset of muscle weakness varies widely, but usually occurs in the teenage years or early adulthood. This evidence concerns the gene DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin.