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

BACKGROUND: Periaxins (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). METHODS: In this study, we screened for PRX mutations using next-generation sequencing and whole-exome sequencing i...

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Detalles Bibliográficos
Autores principales: Ma, Xinran, Liu, Xiaoxuan, Duan, Xiaohui, Fan, Dongsheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352492/
https://www.ncbi.nlm.nih.gov/pubmed/37470010
http://dx.doi.org/10.3389/fneur.2023.1148044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352492/
https://www.ncbi.nlm.nih.gov/pubmed/37470010
http://dx.doi.org/10.3389/fneur.2023.1148044

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