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http://dx.doi.org/10.14253/acn.2019.21.1.57

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)
Publication Information
Annals of Clinical Neurophysiology / v.21, no.1, 2019 , pp. 57-60 More about this Journal
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.
Keywords
Charcot-Marie-Tooth disease; MFN2; Mutation; Phenotype;
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