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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064823/ https://www.ncbi.nlm.nih.gov/pubmed/30083128 http://dx.doi.org/10.3389/fneur.2018.00571 |