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Article

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

Journal of neurology - 1 Apr 2023

Lin Junyu, Li Chunyu, Cui Yiyuan, Hou Yanbing, Zhang Lingyu, Ou Ruwei, Wei Qianqian, Liu Kuncheng, Yang Tianmi, Xiao Yi, Jiang Qirui, Zhao Bi, Yang Jing, Chen Xueping, Shang Huifang

Abstract excerpt

STUDY OBJECTIVES: Recently, IMPDH2 has been linked to dystonia. However, no replication study from other cohorts has been conducted to confirm the association. We aimed to systematically evaluate the genetic associations of IMPDH2 with dystonia in a large dystonia cohort. METHODS: We analyzed rare variants (minor allele frequency < 0.01) of IMPDH2 in 688 Chinese dystonia patients with whole exome sequencing. The...

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PMID: 36648520
DOI: 10.1007/s00415-023-11564-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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