Article
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia.
Human genetics - 1 Aug 2023
Huang Hua Lin, Zhang Qing Xia, Huang Fei, Long Xiao Yan, Song Zhi, Xiao Bo, Li Guo Liang, Ma Cai Yu, Liu Ding
Abstract excerpt
TMEM151A, located at 11q13.2 and encoding transmembrane protein 151A, was recently reported as causative for autosomal dominant paroxysmal kinesigenic dyskinesia (PKD). Here, through comprehensive analysis of sporadic and familial cases, we expand the clinical and mutation spectrum of PKD. In doing so, we clarify the clinical and genetic features of Chinese PKD patients harboring TMEM151A variants and further...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.