Article
THAP1 mutations and dystonia phenotypes: genotype phenotype correlations.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2012
Xiromerisiou Georgia, Houlden Henry, Scarmeas Nikolaos, Stamelou Maria, Kara Eleanna, Hardy John, Lees Andrew J, Korlipara Prasad, Limousin Patricia, Paudel Reema, Hadjigeorgiou Georgios M, Bhatia Kailash P
Abstract excerpt
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as...
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