Limb-girdle muscular dystrophy type 2B (LGMDR2) and Miyoshi myopathy (MM) caused by variants in the dysferlin gene, DYSF (146), are the two major clinical types of dysferlinopathy (147), characterized by proximal muscle-weakness, difficulty in running and climbing stairs, and increased fatigue (148). Here, DYSF is linked to neuromuscular disease caused by qualitative or quantitative defects of dysferlin.