Lafora disease is not linked to the Unverricht-Lundborg locus
Journal Article
·
· American Journal of Medical Genetics
- INSERM, Montpellier (France); and others
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. 16 refs., 2 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 443801
- Journal Information:
- American Journal of Medical Genetics, Vol. 60, Issue 1; Other Information: PBD: 27 Feb 1995
- Country of Publication:
- United States
- Language:
- English
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