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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2002-8-28
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pubmed:abstractText |
Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0028-3878
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pubmed:author |
pubmed-author:BonneGG,
pubmed-author:BuschH F MHF,
pubmed-author:DemayLL,
pubmed-author:DuboeFF,
pubmed-author:EymardBB,
pubmed-author:MerliniLL,
pubmed-author:ReissPP,
pubmed-author:RichardPP,
pubmed-author:SchwartzKK,
pubmed-author:TalimBB,
pubmed-author:Van der ValkMM,
pubmed-author:de VisserMM,
pubmed-author:van der KooiA JAJ
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pubmed:issnType |
Print
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pubmed:day |
27
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
620-3
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12196663-Adult,
pubmed-meshheading:12196663-Atrial Fibrillation,
pubmed-meshheading:12196663-Cardiomyopathies,
pubmed-meshheading:12196663-Electrocardiography,
pubmed-meshheading:12196663-Fatal Outcome,
pubmed-meshheading:12196663-Female,
pubmed-meshheading:12196663-Humans,
pubmed-meshheading:12196663-Lamin Type A,
pubmed-meshheading:12196663-Lamins,
pubmed-meshheading:12196663-Lipodystrophy,
pubmed-meshheading:12196663-Muscular Dystrophies,
pubmed-meshheading:12196663-Mutation, Missense,
pubmed-meshheading:12196663-Nuclear Proteins,
pubmed-meshheading:12196663-Tomography, X-Ray Computed
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pubmed:year |
2002
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pubmed:articleTitle |
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
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pubmed:affiliation |
Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. a.j.kooi@amc.uva.nl
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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