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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 57 - 60 (4page)
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초록· 키워드
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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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참고문헌 (10)
참고문헌 신청
Verhoeven K / 2006 / MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2 / Brain 129(Pt 8):2093~2102
Cartoni R / 2009 / Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A / Exp Neurol 218:268~273
Stuppia G / 2015 / MFN2-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives / J Neurol Sci 356:7~18
Chung KW / 2006 / Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations / Brain 129(Pt 8):2103~2118
Züchner S / 2006 / Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 / Ann Neurol 59:276~281
Cartoni R / 2009 / Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A / Exp Neurol 218:268~273
Stuppia G / 2015 / MFN2-related neuropathies: clinical features, molecular pathogenesis and therapeutic perspectives / J Neurol Sci 356:7~18
Chung KW / 2006 / Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations / Brain 129(Pt 8):2103~2118
Züchner S / 2006 / Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 / Ann Neurol 59:276~281
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