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muscle–eye–brain disease


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A disorder in which there is severe early-onset muscle weakness, mental retardation and pathological change in the eye. Caused by mutations in a N-acetylglucosaminyl transferase (EC 2.4.1.-) which is involved in O-mannosyl glycan synthesis; hypoglycosylation of α-*dystroglycan alters the binding of laminin, neurexin, and agrin. A similar glycosylation defect apparently underlies Fukuyama's muscular dystrophy and the Walker–Warburg syndrome.

Subjects: Medicine and Health.


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