Article
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
European journal of neurology - 1 Mar 2011
Cheng F B, Wan X H, Feng J C, Wang L, Yang Y M, Cui L Y
Abstract excerpt
BACKGROUND: Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6. The relative frequency and phenotype differences between DYT1 and DYT6 amongst Chinese primary dystonia patients have not been well-characterized....
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