期刊
MOVEMENT DISORDERS
卷 25, 期 16, 页码 2854-2857出版社
WILEY-LISS
DOI: 10.1002/mds.23133
关键词
dystonia; DYT1; TOR1A; DYT6; THAP1; de novo mutation
资金
- NINDS NIH HHS [NS26636] Funding Source: Medline
The TOR1A and THAP1 genes were screened for mutations in a cohort of 21 Brazilian patients with Primary torsion dystonia (PTD). We identified a de novo delGAG mutation in the TOR1A gene in a patient with a typical DYT1 phenotype and a novel c.1A > G (p.Met1?) mutation in THAP1 in a patient with early onset generalized dystonia with speech involvement. Mutations in these two known PTD genes, TOR1A and THAP1, are responsible for about 10% of the PTD cases in our Brazilian cohort suggesting genetic heterogeneity and supporting the role of other genes in PTD. (C) 2010 Movement Disorder Society
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