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). Here, POMK is linked to limb-girdle muscular dystrophy.