Article
Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
Brain : a journal of neurology - 1 Oct 2012
van Gassen Koen L I, van der Heijden Charlotte D C C, de Bot Susanne T, den Dunnen Wilfred F A, van den Berg Leonard H, Verschuuren-Bemelmans Corien C, Kremer H P H, Veldink Jan H, Kamsteeg Erik-Jan, Scheffer Hans, van de Warrenburg Bart P
Abstract excerpt
Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. Additional disease features may also be observed as part of a more complex phenotype. Many different mutations have already been identified, but no genotype-phenotype correlations have been found so far. From...
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