New m>THAP1m> mutation and role of putative modifier in m>TOR1Am>

详细信息    查看全文

• 作者：L. G. Piovesana ; F. R. Torres ; P. C. Azevedo ; T. P. Amaral ; I. Lopes-Cendes and A. D'Abreu
• 刊名：Acta Neurologica Scandinavica
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：135
• 期：2
• 页码：183-188
• 全文大小：98K
• ISSN：1600-0404

文摘

The prevalence of DYT1 (mutation in m>TOR1Am>) and DYT6 (mutation in m>THAP1)m> may vary in different populations, which can have important implications in clinical investigation. Our goal was to characterize patients with inherited and isolated dystonia and determine the frequency of mutations responsible for DYT1 and DYT6 in Brazilian patients.