“…The main clinical presentations are the distal-onset muscular dystrophy called ,Miyoshi myopathy and the proximal-onset form LGMD2B, both characterized by progressive muscle weakness, usually appearing in the second decade, and highly elevated serum creatine kinase (CK) levels. Progressively, the description of different phenotypes caused by DYSF mutations Klinge, et al, 2008;Nguyen, et al, 2005;Nguyen, et al, 2007;Okahashi, et al, 2008;Paradas, et al, 2009;Seror, et al, 2008;Spuler, et al, 2008;Ueyama, et al, 2002;Wenzel, et al, 2007), in addition to the "typical" LGMD and Miyoshi phenotypes, unraveled a wide spectrum of phenotypes, ranging from clinically asymptomatic, isolated hyperCKemia to severe and early onset presentations (Bushby, 2000;Laval and Bushby, 2004;Urtizberea, et al, 2008). This wide range of clinical presentations is collectively referred to as dysferlinopathies.…”