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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2001-4-26
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pubmed:abstractText |
Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical demarcation of this syndrome, whereas the phenotypic distinction between MEB and WWS has remained controversial. The MEB gene is located on chromosome 1p32-p34.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:AhmadAA,
pubmed-author:BayésMM,
pubmed-author:BrunnerH GHG,
pubmed-author:CormandBB,
pubmed-author:DobynsW BWB,
pubmed-author:Gershoni-BaruchRR,
pubmed-author:LehesjokiA EAE,
pubmed-author:PihkoHH,
pubmed-author:SantavuoriPP,
pubmed-author:TalimBB,
pubmed-author:TopalogluHH,
pubmed-author:ValanneLL,
pubmed-author:VoitTT,
pubmed-author:van BokhovenHH
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pubmed:issnType |
Print
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pubmed:day |
24
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1059-69
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11320179-Adolescent,
pubmed-meshheading:11320179-Brain,
pubmed-meshheading:11320179-Chi-Square Distribution,
pubmed-meshheading:11320179-Child,
pubmed-meshheading:11320179-Child, Preschool,
pubmed-meshheading:11320179-Chromosomes, Human, Pair 1,
pubmed-meshheading:11320179-Dandy-Walker Syndrome,
pubmed-meshheading:11320179-Eye Abnormalities,
pubmed-meshheading:11320179-Eye Diseases, Hereditary,
pubmed-meshheading:11320179-Female,
pubmed-meshheading:11320179-Genetic Linkage,
pubmed-meshheading:11320179-Genotype,
pubmed-meshheading:11320179-Haplotypes,
pubmed-meshheading:11320179-Humans,
pubmed-meshheading:11320179-Infant,
pubmed-meshheading:11320179-Lod Score,
pubmed-meshheading:11320179-Male,
pubmed-meshheading:11320179-Muscular Dystrophies,
pubmed-meshheading:11320179-Pedigree,
pubmed-meshheading:11320179-Phenotype
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pubmed:year |
2001
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pubmed:articleTitle |
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease.
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pubmed:affiliation |
Department of Medical Genetics, University of Helsinki, Finland. bcormand@imim.es
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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