“…Limb girdle muscular dystrophy type 2L (LGMD2L) is a condition characterized by proximal weakness affecting primarily the pelvic girdle and leg muscles, with less prominent distal leg weakness and high CK values [Hicks et al, 2011]. LGMD2L, together with a more distal variant also known as nondysferlin Miyoshi muscular dystrophy type 3 (MMD3) as well as some cases of isolated hyperCKaemia and pseudometabolic myopathy, have been shown to be associated with recessive mutations in the ANO5 gene [MIM #608662; Bolduc et al, 2010;Bouquet et al, 2012;Deschauer et al, 2011;Hicks et al, 2011;Magri et al, 2012;Milone et al, 2012;Little et al, 2013;Neusch et al, 2012;Penttilä et al, 2012;Pénisson-Besnier et al, 2012;Schessl et al, 2012;Wahbi et al, 2012;Witting et al, 2012]. The prevalence of ANO5 gene related conditions, or so-called anoctaminopathies, is not yet fully established, but preliminary data from Northern England indicate that LGMD2L is the 3rd most common type of LGMD with a minimum prevalence of 0.27/100 000 [Hicks et al, 2011].…”