Therefore, it was possible that the two DYSF variants were in trans, one inherited from each parent, or the second DYSF variant, c.4794G>T, was de novo, in which the variants could be in cis or trans. DYSF is known to be associated with Miyoshi myopathy, limb-girdle muscular dystrophy 2B (LGMD2B), and distal myopathy with anterior tibial onset, all of which are autosomal recessive conditions. Here, DYSF is linked to Miyoshi myopathy.