Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population

Lin, JY; Li, CY; Cui, YY; Hou, YB; Zhang, LY; Ou, RW; Wei, QQ; Liu, KC; Yang, TM; Xiao, Y; Jiang, QR; Zhao, B; Yang, J; Chen, XP; Shang, HF

Shang, HF (通讯作者)，Sichuan Univ, Dept Neurol, Rare Dis Ctr, Lab Neurodegenerat Disorders,West China Hosp, 37 Guo Xue Rd, Chengdu 610041, Sichuan, Peoples R China.

JOURNAL OF NEUROLOGY, 2023; 270 (4): 2197

Abstract

Study objectivesRecently, IMPDH2 has been linked to dystonia. However, no replication study from other cohorts has been conducted to confirm the assoc......

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