Dysferlin is best characterised in the developmental role of muscle myopathies, specifically limb girdle muscular dystrophy (LGMD), Miyoshi myopathy (MM) and distal anterior myopathy as a result of gene (DYSF) mutations (Illa et al. 2001; Liu et al. 1998). The gene discussed is DYSF; the disease is limb-girdle muscular dystrophy.