LGMDs are a heterogeneous group of disorders that comprise approximately 30% of all DMD cases (79), and includes dysferlinopathy (also known as LGMD type R2 or Miyoshi myopathy), an autosomal recessive disorder caused by mutations in the dysferlin gene, DYSF, which encodes a protein highly expressed in muscle and is essential in membrane repair (80). This evidence concerns the gene DYSF and neuromuscular disease caused by qualitative or quantitative defects of dysferlin.