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Updated: Jul 23, 2026

Live Imaging and Analysis of Muscle Contractions in Drosophila Embryo
Published on: July 9, 2019
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG
D S Kim1, Y K Hayashi, H Matsumoto
1Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan.
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 alpha-dystroglycan (alpha-DG) core protein, but fully glycosylated alpha-DG antibody epitopes were absent, associated with the loss of laminin-binding activity.
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