A novel exon 3 mutation in a Tunisian patient with Lafora's disease
| Autor: | Gaetan Lesca, H Mrabet Khiari, Amel Mrabet, Alain Malafosse |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Tunisia Mutation/genetics Adolescent Lafora Disease/diagnosis/genetics Progressive myoclonus epilepsy Lafora disease Exon ddc:616.89 Exons/genetics medicine Humans Cognitive decline Genetics business.industry Exons medicine.disease Protein Tyrosine Phosphatases Non-Receptor/genetics Protein Tyrosine Phosphatases Non-Receptor Glutamine Neurology Lafora Disease Mutation (genetic algorithm) Mutation Female Neurology (clinical) Leucine business Consanguineous Marriage |
| Zdroj: | Journal of the Neurological Sciences, Vol. 304, No 1-2 (2011) pp. 136-7 |
| ISSN: | 1878-5883 0022-510X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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