DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: Mutations in the dysferlin gene cause allelic autosomal recessive disorders including limb girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy [1], [2] and distal anterior compartment myopathy [3], [4], [5], collectively known as the dysferlinopathies.