中国现代神经疾病杂志 ›› 2023, Vol. 23 ›› Issue (7): 643-647. doi: 10.3969/j.issn.1672-6731.2023.07.014

• 病例报告 • 上一篇    下一篇

2 BSCL2基因c.455A>G突变致远端型遗传性运动神经病V型一家系

李跃文, 褚先舟, 李娟, 秦艳, 吴桐, 陈先文*()   

  1. 230022 合肥, 安徽医科大学第一附属医院神经内科
  • 收稿日期:2023-06-18 出版日期:2023-07-25 发布日期:2023-08-03
  • 通讯作者: 陈先文
  • 基金资助:
    国家自然科学基金资助项目(81971072)

Distal hereditary motor neuropathy type Ⅴ caused by mutation of c.455A > G in BSCL2 gene: a family report

Yue-wen LI, Xian-zhou CHU, Juan LI, Yan QIN, Tong WU, Xian-wen CHEN*()   

  1. Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei 230022, Anhui, China
  • Received:2023-06-18 Online:2023-07-25 Published:2023-08-03
  • Contact: Xian-wen CHEN
  • Supported by:
    the National Natural Science Foundation of China(81971072)

关键词: 遗传变性障碍,神经系统, 基因, 突变, 病例报告

Key words: Heredodegenerative disorders, nervous system, Genes, Mutation, Case reports