| Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. | |
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MedLine Citation:
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PMID: 7818265 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Both Fukuyama-type congenital muscular dystrophy (FCMD) and Walker-Warburg syndrome (WWS) are unusual genetic syndromes consisting of congenital muscular dystrophy and complex malformations of the brain and eye. It has been intensively discussed whether FCMD and WWS belong to the same disease entity or not. We analyzed a family in which 3 siblings were affected with either FCMD or WWS by using polymorphic microsatellites flanking the FCMD locus on chromosome 9q31-33. The results suggested that both FCMD and WWS siblings shared the identical combination of mutations on either allele of the FCMD locus. FCMD and WWS could be "genetically" identical. |
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Authors:
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T Toda; M Yoshioka; Y Nakahori; I Kanazawa; Y Nakamura; Y Nakagome |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Annals of neurology Volume: 37 ISSN: 0364-5134 ISO Abbreviation: Ann. Neurol. Publication Date: 1995 Jan |
Date Detail:
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Created Date: 1995-02-07 Completed Date: 1995-02-07 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7707449 Medline TA: Ann Neurol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 99-101 Citation Subset: IM |
Affiliation:
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Department of Human Genetics, School of International Health, University of Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Brain / abnormalities* Chromosomes, Human, Pair 9 / genetics* DNA / analysis Eye Abnormalities / genetics* Genetic Markers Genotype Humans Infant Linkage (Genetics) / genetics Male Muscular Dystrophies / congenital*, genetics* Mutation Pedigree Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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