ANO5 and neuromuscular disease caused by qualitative or quantitative defects of dysferlin: RM as the presenting symptom of MDs has also been reported in association with sarcoglycanopathies, dysferlinopathies [83,84] and the more recently reported conditions related to recessive mutations in ANO5. Recessive mutations in ANO5 (OMIM#608662) cause a wide spectrum of myopathies including LGMD2L, distal myopathy and isolated hyperCKemia.