POMK and limb-girdle muscular dystrophy: POMK mutations cause a spectrum of congenital and limb-girdle muscular dystrophies, including the most severe presentation known as the Walker-Warburg syndrome, which is associated with brain and eye abnormalities and death in early childhood (Di Costanzo et al., 2014; Jae et al., 2013; von Renesse et al., 2014).