The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. The gene discussed is B3GALNT2; the disease is neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.