Dysferlin has been linked to Limb Girdle Muscular Dystrophy type R2 (LGMD R2), which encompasses several phenotypes previously referred to as Miyoshi myopathy (MMD1), LGMD 2B, distal myopathy of the anterior tibialis (DMAT), and asymptomatic hyperCKemia. The gene discussed is DYSF; the disease is Miyoshi myopathy.