The two major phenotypes are limb-girdle muscular dystrophy type 2B (LGMD2B), now called LGMDR2 according to the new nomenclature [2], presenting with proximal weakness in the lower limbs, and Miyoshi muscular dystrophy-1 (MMD1), a distal myopathy initially affecting the posterior compartment muscles of the leg. Here, DYSF is linked to autosomal recessive limb-girdle muscular dystrophy type 2B.