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Title Lafora disease is not linked to the Unverricht-Lundborg locus
Creator/Author Labauge, P. ; Beck, C. ; Bellet, H. ; Baldy-Moulinier, M. ; Malafosse, A. [INSERM, Montpellier (France)] [and others]
Publication Date1995 Feb 27
OSTI IdentifierOSTI ID: 443801
Other Number(s)Journal ID: AJMGDA; ISSN 0148-7299; TRN: TRN: 96:005492-0008
Resource TypeJournal Article
Resource RelationJournal Name: American Journal of Medical Genetics; Journal Volume: 60; Journal Issue: 1; Other Information: PBD: 27 Feb 1995
Subject55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 21; GENETIC MAPPING; GENES; EPILEPSY; DIAGNOSIS; HEREDITARY DISEASES; MAN; BIOLOGICAL MARKERS; RECESSIVE MUTATIONS; PROBES
Description/AbstractLafora 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. 16 refs., 2 figs., 2 tabs.
Country of PublicationUnited States
LanguageEnglish
FormatMedium: X; Size: pp. 80-84
System Entry Date2008 Feb 04

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