Recessive mutations in ANO5 are clinically presented by three phenotypes: limb-girdle muscular dystrophy type 2L (LGMD2L), Miyoshi-like distal myopathy (MMD3) and increased serum creatine kinase with variable exercise intolerance [6]. This evidence concerns the gene ANO5 and autosomal recessive limb-girdle muscular dystrophy type 2L.