Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia

Background: Dystonia is a kind of movement disorder but its pathophysiological mechanisms are still largely unknown. Recent evidence reveals that genetical defects may play important roles in the pathogenesis of dystonia. Objectives and Methods: -To explore possible causative genes in Chinese dyston...

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Bibliographic Details

Published in:	Heliyon
Main Authors:	Rui Wu, Wen-Tian Chen, Wei-Kang Dou, Hui-Min Zhou, Ming Shi
Format:	Article
Language:	English
Published:	Elsevier 2024-06-01
Subjects:	Cervical dystonia Dystonia phenotype-associated genes Deleterious variants Whole-exome sequencing ACMG DCTN1
Online Access:	http://www.sciencedirect.com/science/article/pii/S2405844024079167