Article
Assessment of D216H DYT1 polymorphism in a Chinese primary dystonia patient cohort.
European journal of neurology - 1 Jun 2012
Chen Y, Burgunder J-M, Song W, Huang R, Shang H-F
Abstract excerpt
BACKGROUND: The D216H single-nucleotide polymorphism (SNP) (rs1801968) in DYT1 exon 4 has been suggested to be a genetic modifier in primary dystonia. METHODS: To further explore this question, we assessed rs1801968 variations in a cohort of 210 Chinese patients with primary dystonia devoid of DYT1 mutations. RESULTS: We found that focal dystonia, specifically cervical dystonia, was the most common form of...
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