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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-07-01
|
| Series: | Frontiers in Neurology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1148044/full |