Journal article
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
Neurology, Vol.62(6), pp.1009-1011
2004
DOI: 10.1212/01.WNL.0000115386.28769.65
PMID: 15037715
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.
Details
- Title: Subtitle
- POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in α-DG
- Creators
- D.-S KIM - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanY. K HAYASHI - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanI NONAKA - National Center Hospital for Mental, Nervous, and Muscular Disorders, NCNP, Tokyo, JapanI NISHINO - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanH MATSUMOTO - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanM OGAWA - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanS NOGUCHI - Department of Neuromuscular Research, National Institute of Neuroscience, National Center for Neurology and Psychiatry (NCNP), Tokyo, JapanN MURAKAMI - Department of Pediatrics, Dokkyo Medical School, Saitama, JapanR SAKUTA - Department of Pediatrics, Dokkyo Medical School, Saitama, JapanM MOCHIZUKI - Department of Neurology, Saitama Children's Medical Center, Saitama, JapanD. E MICHELE - Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA, United StatesK. P CAMPBELL - Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, IA, United States
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.62(6), pp.1009-1011
- Publisher
- Lippincott Williams & Wilkins; Hagerstown, MD
- DOI
- 10.1212/01.WNL.0000115386.28769.65
- PMID
- 15037715
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Language
- English
- Date published
- 2004
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068273302771
Metrics
16 Record Views