A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
Keywords: سندرم واکر واربورگ; POMT1; Protein O-mannosylation; Dystroglycanopathy; Walker-Warburg syndrome; Congenital muscular dystrophy; Limb girdle muscular dystrophy;