A novel exon 3 mutation in a Tunisian patient with Lafora's disease.
نویسندگان
چکیده
We report a Tunisian patient born from consanguineous marriage affected with progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p.Leu220Gln), in the dual-specificity phosphatase domain.
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عنوان ژورنال:
- Journal of the neurological sciences
دوره 304 1-2 شماره
صفحات -
تاریخ انتشار 2011