Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)

Background:  Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13‐q15, were shown to...

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Veröffentlicht in:European journal of neurology 2008-10, Vol.15 (10), p.1065-1070
Hauptverfasser: Paisan-Ruiz, C., Nath, P., Wood, N. W., Singleton, A., Houlden, H.
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Sprache:eng
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