Article
Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structure.
NeuroImage - 1 Oct 2009
Draganski B, Schneider S A, Fiorio M, Klöppel S, Gambarin M, Tinazzi M, Ashburner J, Bhatia K P, Frackowiak R S J
Abstract excerpt
Our understanding of how genotype determines phenotype in primary dystonia is limited. Familial young-onset primary dystonia is commonly due to the DYT1 gene mutation. A critical question, given the 30% penetrance of clinical symptoms in DYT1 mutation carriers, is why the same genotype leads to differential clinical expression and whether non-DYT1 adult-onset primary dystonia, with and without family history...
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