In humans, mutations within the POMK gene can lead to different alpha-dystroglycanopathy phenotypes ranging from the milder form (type MDDGC12 [7], OMIM #616094) to the most severe form, named Walker-Warburg syndrome (WWS, also named MDDGA12, OMIM #615249), which is a congenital muscular dystrophy associated with central nervous system and eye malformations. This evidence concerns the gene POMK and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.