| A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. | |
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MedLine Citation:
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PMID: 17161965 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Walker--Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD. |
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Authors:
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Uluç Yis; Gökhan Uyanik; Semra Kurul; Eray Dirik; Erdener Ozer; Claudia Gross; Ute Hehr |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-12-11 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 11 ISSN: 1090-3798 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2007 Jan |
Date Detail:
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Created Date: 2007-01-16 Completed Date: 2007-04-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 46-9 Citation Subset: IM |
Affiliation:
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Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey. ulyis@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Codon, Nonsense
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genetics* Humans Hydrocephalus / genetics* Infant, Newborn Male Mannosyltransferases / genetics* Muscular Dystrophies / congenital*, genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; EC 2.4.1.-/Mannosyltransferases; EC 2.4.1.109/protein O-mannosyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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