• Muscular Dystrophy And Neuronal Migration Disorder Caused By Mutations In A Glycosyltransferase, Pomgnt1 

      Yoshida, A; Kobayashi, K; Manya, H; Taniguchi, K; Kano, H; Mizuno, M; Inazu, T; Mitsuhashi, H; Takahashi, S; Takeuchi, M; Herrmann, R; Straub, V; Talim, B; Voit, T; Tapaloglu, H; Toda, T; Endo, T (Cell Press, 2001)
      Muscle-eye-brain disease (MEB) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Mammalian O-mannosyl glycosylation is a rare type of protein ...