Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant

被引：0
|
作者：
Llaurado, Arnau [1 ]
Gratacos-Vinola, Margarida [2 ]
Rovira-Moreno, Eulalia [3 ]
Codina-Sola, Marta [3 ]
Salvado, Maria [1 ]
Sanchez-Tejerina, Daniel [1 ]
Sotoca, Javier [1 ]
Raguer, Nuria [2 ]
Garcia-Arumi, Elena [3 ]
Juntas-Morales, Raul [1 ]
机构：
[1] Univ Autonoma Barcelona, Hosp Univ Vall dHebron, Dept Neurol, Neuromuscular Dis Unit,European Reference Network, Barcelona, Spain
[2] Univ Autonoma Barcelona, Hosp Vall dHebron, Dept Clin Neurophysiol, Barcelona, Spain
[3] Univ Autonoma Barcelona, Hosp Vall dHebron, Dept Clin & Mol Genet, Barcelona, Spain
来源：
MUSCLE & NERVE | 2023年 / 67卷 / 06期
关键词：
TRANSFER-RNA SYNTHETASE;
D O I：
10.1002/mus.27788
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：E22 / E24
页数：3
相关论文
共 8 条
  • [1] A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy
    Forrest, Megan E.
    Meyer, Alayne P.
    Figueroa, Stephanie M. Laureano M.
    Antonellis, Anthony
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2022, 8 (07):
  • [2] Reply: A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family
    Liao, Yi-Chu
    Lee, Yi-Chung
    BRAIN, 2019, 142
  • [3] A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy
    Tsai, Pei-Chien
    Soong, Bing-Wen
    Mademan, Ines
    Huang, Yen-Hua
    Liu, Chia-Rung
    Hsiao, Cheng-Tsung
    Wu, Hung-Ta
    Liu, Tze-Tze
    Liu, Yo-Tsen
    Tseng, Yen-Ting
    Lin, Kon-Ping
    Yang, Ueng-Cheng
    Chung, Ki Wha
    Choi, Byung-Ok
    Nicholson, Garth A.
    Kennerson, Marina L.
    Chan, Chih-Chiang
    De Jonghe, Peter
    Cheng, Tzu-Hao
    Liao, Yi-Chu
    Zuchner, Stephan
    Baets, Jonathan
    Lee, Yi-Chung
    BRAIN, 2017, 140 : 1252 - 1266
  • [4] Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families
    Xie, Yongzhi
    Lin, Zhiqiang
    Pakhrin, Pukar Singh
    Li, Xiaobo
    Wang, Binghao
    Liu, Lei
    Huang, Shunxiang
    Zhao, Huadong
    Cao, Wanqian
    Hu, Zhengmao
    Guo, Jifeng
    Shen, Lu
    Tang, Beisha
    Zhang, Ruxu
    FRONTIERS IN NEUROLOGY, 2020, 11
  • [5] A novel WARS mutation (p.Asp314Gly) identified in a Chinese distal hereditary motor neuropathy family
    Wang, Binghao
    Li, Xiaobo
    Huang, Shunxiang
    Zhao, Huadong
    Liu, Jun
    Hui, Zhengmao
    Lin, Zhiqiang
    Liu, Lei
    Xie, Yongzhi
    Jin, Qingwen
    Zhao, Huihui
    Tang, Beisha
    Niu, Qi
    Zhang, Ruxu
    CLINICAL GENETICS, 2019, 96 (02) : 176 - 182
  • [6] Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1
    Hines, Timothy J.
    Tadenev, Abigail L. D.
    Lone, Museer A.
    Hatton, Courtney L.
    Bagasrawala, Inseyah
    Stum, Morgane G.
    Miers, Kathy E.
    Hornemann, Thorsten
    Burgess, Robert W.
    JOURNAL OF ANATOMY, 2022, 241 (05) : 1169 - 1185
  • [7] Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders
    Merner, N. D.
    Dion, P. A.
    Rouleau, G. A.
    CLINICAL GENETICS, 2011, 79 (01) : 23 - 34
  • [8] Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations
    Jin, Xiaofen
    Zhang, Juanjuan
    Yi, Qiuzi
    Meng, Feilong
    Yu, Jialing
    Ji, Yanchun
    Mo, Jun Q.
    Tong, Yi
    Jiang, Pingping
    Guan, Min-Xin
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (07)
1