Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy

BACKGROUND: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0–47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5’UTR of NOTCH2NLC has been associated with...

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Detalles Bibliográficos
Autores principales: Wu, Chengsi, Xiang, Haijie, Chen, Ran, Zheng, Yilei, Zhu, Min, Chen, Shuyun, Yu, Yanyan, Peng, Yun, Yu, Yaqing, Deng, Jianwen, Zhou, Meihong, Hong, Daojun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082376/
https://www.ncbi.nlm.nih.gov/pubmed/35297556
http://dx.doi.org/10.1002/acn3.51543

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9082376/
https://www.ncbi.nlm.nih.gov/pubmed/35297556
http://dx.doi.org/10.1002/acn3.51543

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