中国现代神经疾病杂志 ›› 2023, Vol. 23 ›› Issue (9): 832-837. doi: 10.3969/j.issn.1672-6731.2023.09.010

• 神经肌肉病:病例报告 • 上一篇    下一篇

2 GMPPB基因变异致肢带型肌营养不良合并先天性肌无力综合征一例

李冉1, 邹慧敏2, 邢春叶2, 宋进2, 郝延磊2,*()   

  1. 1. 250012 济南, 山东大学基础医学院2022级
    2. 272007 济宁医学院附属医院神经内科
  • 收稿日期:2022-08-01 出版日期:2023-09-25 发布日期:2023-10-10
  • 通讯作者: 郝延磊
  • 基金资助:
    国家自然科学基金资助项目(81771360); 山东省高等学校科技计划项目(J18KA300); 山东省济宁市重点研发计划项目(2021YXNS130)

Limb-girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report

Ran LI1, Hui-min ZOU2, Chun-ye XING2, Jin SONG2, Yan-lei HAO2,*()   

  1. 1. Grade 2022, School of Basic Medical Sciences, Shandong University, Ji'nan 250012, Shandong, China
    2. Department of Neurology, Affiliated Hospital of Ji'ning Medical University, Ji'ning 272007, Shandong, China
  • Received:2022-08-01 Online:2023-09-25 Published:2023-10-10
  • Contact: Yan-lei HAO
  • Supported by:
    the National Natural Science Foundation of China(81771360); Science and Technology Plan of Colleges and Universities in Shandong(J18KA300); Key Research and Development Plan of Ji'ning in Shandong(2021YXNS130)

关键词: 肌营养不良, 肢带型, 肌无力综合征, 先天性, 基因, 突变, 病例报告

Key words: Muscular dystrophies, limb-girdle, Myasthenic syndromes, congenital, Genes, Mutation, Case reports