POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
- 23 March 2004
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 62 (6) , 1009-1011
- https://doi.org/10.1212/01.wnl.0000115386.28769.65
Abstract
Walker–Warburg syndrome (WWS) is a congenital muscular dystrophy associated with neuronal migration disorder and structural eye abnormalities. The mutations in the O-mannosyltransferase 1 gene (POMT1) were identified recently in 20% of patients with WWS. The authors report on a patient with WWS and a novel POMT1 mutation. Their patient expressed α-dystroglycan (α-DG) core protein, but fully glycosylated α-DG antibody epitopes were absent, associated with the loss of laminin-binding activity.Keywords
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