Document Detail


Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome.
MedLine Citation:
PMID:  7818265     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
T Toda; M Yoshioka; Y Nakahori; I Kanazawa; Y Nakamura; Y Nakagome
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Annals of neurology     Volume:  37     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1995 Jan 
Date Detail:
Created Date:  1995-02-07     Completed Date:  1995-02-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  99-101     Citation Subset:  IM    
Affiliation:
Department of Human Genetics, School of International Health, University of Tokyo, Japan.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / 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:
0/Genetic Markers; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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