Similar results have previously been reported in dystroglycanopathy patients with Protein-O-mannosyl transferase 1 (POMT1), Protein-O-mannosyl transferase 2 (POMT2), POMGnT1, FKTN and FKRP mutations [25]. Here, POMT2 is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.