Given that encephaloceles are occasionally associated with other genetic defects causative of alpha-dystroglycanopathies, including genes encoding for proteins involved in O-mannosylation of α-DG such as POMT1 [3], the presence of a meningoencephalocele in our POMK patients supports the concept that perturbed post-translational modification of α-DG has a detrimental impact on α-DG-function and affects correct maturation of the neural tube during fetal development. Here, POMT1 is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.