Similar deficiencies of dysferlin were reported to be correlated with muscular dystrophy in humans, leading to clinically distinct muscle diseases, including limb girdle muscular dystrophy type 2B (LGMD 2B) with predominantly proximal weakness, Miyoshi myopathy (MM) with calf muscle weakness and atrophy, and distal myopathy with anterior tibial onset (DMAT) with tibialis muscle atrophy [45,46,47,48]. Here, DYSF is linked to Miyoshi myopathy.