Article
A PTG variant contributes to a milder phenotype in Lafora disease.
PloS one - 1 Jan 2011
Guerrero Rosa, Vernia Santiago, Sanz Raúl, Abreu-Rodríguez Irene, Almaraz Carmen, García-Hoyos María, Michelucci Roberto, Tassinari Carlo Alberto, Riguzzi Patrizia, Nobile Carlo, Sanz Pascual, Serratosa José M, Gómez-Garre Pilar
Abstract excerpt
Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora disease patients with EPM2A or EPM2B mutations. We established a list of 43 genes coding for proteins related to...
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