Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin.
Muntoni
Francesco
F
D002648:Child; D006801:Humans; D008607:Intellectual Disability / Q000503:physiopathology*; D008364:Mannosyltransferases / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics
D008364:Mannosyltransferases; C082696:protein O-mannosyltransferase