Conditions with distinct phenotypic presentations that have been associated with DYSF gene mutations include limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), asymptomatic hyperCKemia, and distal myopathy with anterior tibial onset (DMAT) [1]. This evidence concerns the gene DYSF and autosomal recessive limb-girdle muscular dystrophy type 2B.