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Clinical Heterogeneity and Genotype Phenotype correlations in Hereditary Spastic Paraplegia (HSP) due to Spatacsin mutations (SPG11)
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex HSP classified as SPG11. The gene for SPG11 was localized to chromosome 15q13-q15 and recently mutations in Spatacsin (KIAA1840) were shown to cause the majority of SP...
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| Publicado no: | Eur J Neurol |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7254873/ https://ncbi.nlm.nih.gov/pubmed/18717728 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1468-1331.2008.02247.x |
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