POMK mutations cause not only Walker–Warburg syndrome (34) but also a more severe subtype, type C12 (MDDGC12) limb-girdle muscular dystrophy-dystroglycanopathy and type A12 (MDDGA12) congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (164, 165, 168, 169). The gene discussed is POMK; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.