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KMID : 1044320190210010057
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Annals of Clinical Neurophysiology
2019 Volume.21 No. 1 p.57 ~ p.60
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A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
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Kang Sa-Yoon
Ko Keun-Hyuk
Oh Jung-Hwan
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Abstract
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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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KEYWORD
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Charcot-Marie-Tooth disease, MFN2, Mutation, Phenotype
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