A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia

A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia

BackgroundThe etiology and pathogenesis of idiopathic dystonia remain obscure. Recent studies revealed that compound heterozygous mutations in collagen type VI alpha-3 gene COL6A3 may cause recessive isolated dystonia (DYT)-27. However, whether COL6A3 mutations are associated with Chinese patients w...

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Bibliographic Details
Main Authors: Rui Wu, Weikang Dou, Huimin Zhou, Ming Shi
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Neurology
Subjects:
cervical dystonia
COL6A3
novel variant
compound heterozygous mutation
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1105760/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2023.1105760/full

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