Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A

  • Kang, Sa-Yoon (Department of Neurology, Jeju National University School of Medicine) ;
  • Ko, Keun Hyuk (Department of Neurology, Jeju National University School of Medicine) ;
  • Oh, Jung-Hwan (Department of Neurology, Jeju National University School of Medicine)
  • Received : 2018.06.14
  • Accepted : 2018.12.05
  • Published : 2019.01.31
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Abstract

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.

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References

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