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