Open access
Oct 2026
Whole‐Exome Sequencing Reveals the Genetic Landscape and Genotype–Phenotype Spectrum of Dystonia in a Chinese Cohort
ABSTRACT Aims 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. Methods Whole‐exome sequencing (WES) was performed in a cohort of 147 clinically diagnosed dystonia pat...
Yi-Qing Gong, Hui-Rong Peng, Zhao Chen et al.
· CNS Neuroscience & Therapeut... · 0 citations