Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease

We studied a Malian family with parental consanguinity and two of eight siblings affected with late-childhood-onset progressive myoclonus epilepsy and cognitive decline, consistent with the diagnosis of Lafora disease. Genetic analysis showed a novel homozygous single-nucleotide variant in the NHLRC...

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Hlavní autoři: Traoré, M., Landouré, G., Motley, W., Sangaré, M., Meilleur, K., Coulibaly, S., Traoré, S., Niaré, B., Mochel, F., La Pean, A., Vortmeyer, A., Mani, H., Fischbeck, K. H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer-Verlag 2009
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Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2758214/
https://ncbi.nlm.nih.gov/pubmed/19322595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-009-0190-4
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