Mutations in the dysferlin gene (DYSF) cause myopathies including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD2B), and distal anterior compartment myopathy1,2,3, which are collectively called the dysferlinopathies. This evidence concerns the gene DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin.