POMK and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: Interestingly, unlike with other dystroglycanopathy genes there are patients with complete loss-of-function mutations in POMK who suffer from mild forms of dystroglycanopathy (Di Costanzo et al., 2014; von Renesse et al., 2014), suggesting some expression of matriglycan without POMK.