中国现代神经疾病杂志 ›› 2025, Vol. 25 ›› Issue (8): 748-751. doi: 10.3969/j.issn.1672-6731.2025.08.010

• 神经系统相关罕见病报告 • 上一篇    下一篇

2 NEFL基因突变致腓骨肌萎缩症显性中间G型一家系

李欢1, 于向明1,*(), 刘又玮1, 王晓玲2,*()   

  1. 1. 264002 烟台,联勤保障部队第九七○医院神经内科
    2. 250031 济南,联勤保障部队第九六○医院
  • 收稿日期:2024-11-28 出版日期:2025-08-25 发布日期:2025-09-06
  • 通讯作者: 于向明, 王晓玲

A pedigree of dominant intermediate Charcot-Marie-Tooth disease type G with NEFL gene mutation

Huan LI1, Xiang-ming YU1,*(), You-wei LIU1, Xiao-ling WANG2,*()   

  1. 1. Department of Neurology, 970th Hospital of PLA Joint Logistic Support Force, Yantai 264002, Shandong, China
    2. Department of Neurology, 960th Hospital of PLA Joint Logistic Support Force, Ji'nan 250031, Shandong, China
  • Received:2024-11-28 Online:2025-08-25 Published:2025-09-06
  • Contact: Xiang-ming YU, Xiao-ling WANG

关键词: 夏科-马里-图斯病, 神经微丝蛋白质类, 基因, 突变, 病例报告

Key words: Charcot-Marie-Tooth disease, Neurofilament proteins, Genes, Mutation, Case reports