Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population.

Junyu LinChunyu LiYiyuan CuiYanbing HouLingyu ZhangRuwei OuQianqian WeiKuncheng LiuTianmi YangYi XiaoQirui JiangBi ZhaoJing YangXueping ChenHui Fang Shang

Published in: Journal of neurology (2023)

Our work supplemented the evidence on the role of IMPDH2 in autosomal dominant dystonia in Chinese population, and expanded the genetic and phenotypic spectrum of IMPDH2, paving way for future studies.

Keyphrases

deep brain stimulation
early onset
copy number
current status
genome wide
gene expression
dna methylation