Phenotype of non-c.907_909delGAG mutations in TOR1A: DYT1 dystonia revisited
详细信息 查看全文
- 作者：Valerija Dobri膷i膰a ; Nikola Kresojevi膰a ; Milena 沤arkovi膰a ; Aleksandra Tomi膰a ; Ana Marjanovi膰a ; Ana Westenbergerb ; Dragana Cvetkovi膰c ; Marina Svetela ; Ivana Novakovi膰d ; Vladimir S. Kosti膰a ; vladimir.s.kostic@gmail.com" class="auth_mail" title="E-mail the corresponding author
- 关键词：TOR1A ; Mutation ; Isolated dystonia
- 刊名：Parkinsonism & Related Disorders
- 出版年：2015
- 出版时间：October 2015
- 年：2015
- 卷：21
- 期：10
- 页码：1256-1259
- 全文大小：366 K
文摘
- •
We tested 461 Serbian patients with dystonia for changes in the TOR1A gene.
- •
One likely pathogenic TOR1A mutation (p.Val129Ile) was detected in one patient.
- •
A literature review of phenotypes of patients with TOR1A mutations was performed.
- •
Our patient and three other reported TOR1A carriers shared similar phenotypes.
- •
Clinical spectrum of DYT1 might include previously sidelined phenotypes.