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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2009
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758214/
https://www.ncbi.nlm.nih.gov/pubmed/19322595
http://dx.doi.org/10.1007/s10048-009-0190-4

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