Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared...

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Autores principales: Meilleur, K.G., Traoré, M., Sangaré, M., Britton, A., Landouré, G., Coulibaly, S., Niaré, B., Mochel, F., La Pean, A., Rafferty, I., Watts, C., Littleton-Kearney, M. T., Blackstone, C., Singleton, A., Fischbeck, K.H.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2009
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2891134/
https://ncbi.nlm.nih.gov/pubmed/20039086
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-009-0230-0
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