Mutations in dysferlin gene (DYSF, MIM*603009) are responsible for recessively inherited dysferlinopathy which is most pronounced in the pelvic and shoulder girdle muscles (Limb girdle muscular dystrophy R2-LGMDR2, formerly LGMD2B), or distal myopathy with onset in gastrocnemius and soleus muscles in cases of Miyoshi myopathy (MM or MMD1), or distal myopathy with onset in the tibialis anterior (DMAT) (also referred to as DACM for distal anterior compartment myopathy) [1, 2]. The gene discussed is DYSF; the disease is neuromuscular disease caused by qualitative or quantitative defects of dysferlin.