Mutation screening of AOPEP variants in a large dystonia cohort.

Junyu LinChunyu LiYiyuan CuiYanbing HouLingyu ZhangRuwei OuQianqian WeiKuncheng LiuRui HuangTianmi YangYi XiaoQirui JiangJing YangXueping ChenHui Fang Shang

Published in: Journal of neurology (2023)

Our study supplemented the evidence on the role of AOPEP in autosomal-recessive dystonia in Chinese population, and expanded the genotypic and phenotypic spectrum of AOPEP.

Keyphrases

deep brain stimulation
early onset
intellectual disability
gene expression
dna methylation
muscular dystrophy
genome wide