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Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

✍ Scribed by Gómez-Garre, Pilar; Sanz, Yolanda; de Córdoba, Santiago Rodríguez; Serratosa, José M

Book ID: 110025062
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 161 KB
Volume: 8
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5200571

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## Communicated by Claude Feréc Lafora disease (LD) is a fatal form of teenage-onset autosomal recessive progressive myoclonus epilepsy. LD is more common among geographic isolates and in populations with a higher rate of consanguinity. Mutations in two genes, EPM2A encoding laforin phosphatase, a