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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2010-9-13
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pubmed:abstractText |
Lafora disease (LD) is an autosomal recessive form of progressive myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
1528-1167
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pubmed:author |
pubmed-author:á Rogvi-HansenBjarkeB,
pubmed-author:Boutry-KryzaNadiaN,
pubmed-author:CalenderAlainA,
pubmed-author:ErdalJesperJ,
pubmed-author:FolettiGiovanniG,
pubmed-author:GentonPierreP,
pubmed-author:HirschEdouardE,
pubmed-author:Lemesle-MartinMartineM,
pubmed-author:LescaGaetanG,
pubmed-author:M'RrabetAmelA,
pubmed-author:MaillardLouisL,
pubmed-author:ManciniJosetteJ,
pubmed-author:MilhMathieuM,
pubmed-author:NielsenJørgen ErikJE,
pubmed-author:RaffoEmmanuelE,
pubmed-author:RudolfGabrielleG,
pubmed-author:RyvlinPhilippeP,
pubmed-author:SteschenkoDominiqueD,
pubmed-author:SzepetowskiPierreP,
pubmed-author:Thauvin-RobinetChristelC,
pubmed-author:VilleDorothéeD,
pubmed-author:de ToffolBertrandB
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pubmed:issnType |
Electronic
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pubmed:volume |
51
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pubmed:owner |
NLM
|
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1691-8
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pubmed:dateRevised |
2010-12-17
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pubmed:meshHeading |
pubmed-meshheading:20738377-Adolescent,
pubmed-meshheading:20738377-Adult,
pubmed-meshheading:20738377-Biopsy,
pubmed-meshheading:20738377-Carrier Proteins,
pubmed-meshheading:20738377-Exons,
pubmed-meshheading:20738377-Female,
pubmed-meshheading:20738377-Genetic Markers,
pubmed-meshheading:20738377-Humans,
pubmed-meshheading:20738377-Lafora Disease,
pubmed-meshheading:20738377-Male,
pubmed-meshheading:20738377-Microsatellite Repeats,
pubmed-meshheading:20738377-Mutation,
pubmed-meshheading:20738377-Pedigree,
pubmed-meshheading:20738377-Protein Tyrosine Phosphatases, Non-Receptor,
pubmed-meshheading:20738377-Skin
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pubmed:year |
2010
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pubmed:articleTitle |
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
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pubmed:affiliation |
Service de génétique, hospices civils de Lyon et université Claude Bernard Lyon I, Lyon, France. gaetan.lesca@chu-lyon.fr
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pubmed:publicationType |
Journal Article,
Comparative Study
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