Cargando…
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: | Yu, Xueying, Chen, Bin, Tang, Hefei, Li, Wei, Fu, Ying, Zhang, Zaiqiang, Yan, Yaping |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
|
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 |
Ejemplares similares
-
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
por: Xie, Yongzhi, et al.
Publicado: (2020) -
Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V
por: Chung, Peter, et al.
Publicado: (2018) -
Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy
por: Liu, Xiaoxuan, et al.
Publicado: (2021) -
Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles
por: Jiang, Nan, et al.
Publicado: (2023) -
Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
por: Dong, Hai-Lin, et al.
Publicado: (2021)