Dysferlinopathies refer to a group of rare, recessively inherited muscular dystrophies that are caused by mutations in the dysferlin gene (DYSF), leading to a deficiency or dysfunction of the dysferlin protein (Bashir et al, 1998; Mercuri et al, 2019). The gene discussed is DYSF; the disease is neuromuscular disease caused by qualitative or quantitative defects of dysferlin.