DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Recessive core myopathies, where the skeletal muscle Ryanodine receptor gene (RYR1) is mutated (Quane et al., 1993; Jungbluth et al., 2005), and dysferlinopathies, caused by mutations in Dysferlin (DYSF) gene (Liu et al., 1998), show a percentage of patients with only an identified mutated allele.