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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1995-12-15
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pubmed:abstractText |
Lafora disease and Unverricht-Lundborg disease are two forms of progressive myoclonus epilepsies (PME). Recently the gene for Unverricht-Lundborg disease (EPM1) was mapped to chromosome 21q22.3. Using three highly polymorphic DNA markers (D21S212, PFKL, and D21S171) which flank the EPM1 locus, we performed linkage analysis to investigate whether or not the EPM1 gene is also implicated in Lafora disease. Linkage was excluded in three North-African pedigrees each comprising at least two affected individuals. This result suggests that differential diagnosis of Lafora disease and Unverricht-Lundborg disease may be facilitated by molecular genetic analysis.
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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 |
Feb
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pubmed:issn |
0148-7299
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
27
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
80-4
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:7485240-Adolescent,
pubmed-meshheading:7485240-Adult,
pubmed-meshheading:7485240-Base Sequence,
pubmed-meshheading:7485240-Child,
pubmed-meshheading:7485240-Chromosome Mapping,
pubmed-meshheading:7485240-Chromosomes, Human, Pair 21,
pubmed-meshheading:7485240-DNA Primers,
pubmed-meshheading:7485240-Diagnosis, Differential,
pubmed-meshheading:7485240-Epilepsies, Myoclonic,
pubmed-meshheading:7485240-Female,
pubmed-meshheading:7485240-Genetic Linkage,
pubmed-meshheading:7485240-Humans,
pubmed-meshheading:7485240-Lod Score,
pubmed-meshheading:7485240-Male,
pubmed-meshheading:7485240-Molecular Biology,
pubmed-meshheading:7485240-Molecular Sequence Data,
pubmed-meshheading:7485240-Pedigree,
pubmed-meshheading:7485240-Polymerase Chain Reaction
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pubmed:year |
1995
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pubmed:articleTitle |
Lafora disease is not linked to the Unverricht-Lundborg locus.
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pubmed:affiliation |
Laboratoire de Médecine Expérimentale, CNRS UPR 9008, INSERM U 249, Montpellier, France.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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