Article
Cellular analysis of a novel mutation p. Ser287Tyr in TOR1A in late-onset isolated dystonia.
Neurobiology of disease - 1 Jul 2020
Xu Longjiang, Yang Zhaoqing, Li Wenwu, Luo Zhiling, Zhang Changjun, Huang Xiaoqin, Ma Shaohui, Long Yuzhou, Chu Yan, Qian Yuan, Wang Xiuyun, Sun Hao
Abstract excerpt
BACKGROUND: Variations in TOR1A were thought to be associated with early-onset isolated dystonia. The variant S287Y (NM_000113.2: c.860C > A, p. Ser287Tyr, rs766483672) was found in our late-onset isolated dystonia patient. This missense variant is adjacent to R288Q (c.863G > A, p. Arg288Gln), which was reported to be associated with isolated dystonia. The potentially pathogenic role of S287Y is not conclusively...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.