A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V

Glycyl-tRNA synthetase (GARS) gene mutations have been reported to be associated with Charcot-Marie-Tooth disease 2D and distal hereditary motor neuropathy type V (dHMN-V). In this study, we report a novel GARS mutation in a Chinese family with dHMN-V. Clinical, electromyogram, genetic, and function...

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Detalhes bibliográficos
Publicado no:Front Neurol
Main Authors: Yu, Xueying, Chen, Bin, Tang, Hefei, Li, Wei, Fu, Ying, Zhang, Zaiqiang, Yan, Yaping
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Neurology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6064823/
https://ncbi.nlm.nih.gov/pubmed/30083128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00571
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