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  • 标题:A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
  • 作者:Kang, Sa-Yoon ; Kang, Sa-Yoon ; Ko, Keun Hyuk
  • 期刊名称:Korean Journal of Clinical Neurophysiology
  • 印刷版ISSN:1229-6414
  • 出版年度:2019
  • 卷号:21
  • 期号:1
  • 页码:57-60
  • DOI:10.14253/acn.2019.21.1.57
  • 语种:English
  • 出版社:KoreaMed Synapse
  • 摘要:

    Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.

  • 关键词:Charcot-Marie-Tooth disease; MFN2; Mutation; Phenotype
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