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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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| Autors principals: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer-Verlag
2009
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| Matèries: | |
| Accés en línia: | 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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