Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

Screening for PRX mutations in a large Chinese Charcot-Marie-Tooth disease cohort and literature review

BackgroundPeriaxins (encoded by PRX) play an important role in the stabilization of peripheral nerve myelin. Mutations in PRX can lead to Charcot-Marie-Tooth disease type 4F (CMT4F).MethodsIn this study, we screened for PRX mutations using next-generation sequencing and whole-exome sequencing in a l...

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Bibliographic Details
Main Authors: Xinran Ma, Xiaoxuan Liu, Xiaohui Duan, Dongsheng Fan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Neurology
Subjects:
Charcot-Marie-Tooth disease
periaxin
mutation
whole-exome sequencing
next-generation sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1148044/full

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