Open access
Whole‐Exome Sequencing Reveals the Genetic Landscape and Genotype–Phenotype Spectrum of Dystonia in a Chinese Cohort
Yi-Qing Gong
Hui-Rong Peng
Zhao Chen
Jia-Wei He
Lin-Liu Peng
Qian Jiang
Chun-Rong Wang
Lin-Lin Wan
Lang He
Yu-Ting Shi
R. Qiu
Hong Jiang
Medicine
Abstract
To systematically characterize the genetic landscape of dystonia in a Mainland Chinese cohort, where over 60% of patients currently lack a molecular diagnosis due to limited large‐scale genomic studies.