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Mitofusin 2 (MFN2) 유전자 돌연변이가 있는 Charcot-Marie-Tooth 2A 환자들의 임상 및 유전학적 특성

Other Titles
 Clinical and Genetic Characteristics in Patients of Charcot-Marie-Tooth type 2A with Mitofusin 2 (MFN2) Mutations 
 최병옥  ;  김상범  ;  박기덕  ;  최경규  ;  오지영  ;  서범천  ;  김세훈  ;  김대성  ;  임정근  ;  주인수  ;  김승민  ;  선우일남  ;  윤은경  ;  정찬구  ;  이정주  ;  김용성  ;  이민철  ;  정기화 
 Journal of the Korean Neurological Association, Vol.24(2) : 131-140, 2006 
Journal Title
 Journal of the Korean Neurological Association 
Issue Date
Charcot-Marie-Tooth disease ; Characteristics ; Mitofusin 2 ; Gene ; Mutation
Background: Mitofusin 2 (MFN2) is a membrane protein and is an essential component of mitochondrial fusion machinery. Mitochondrial fusion is essential for various biological functions in mammalian cells. Thus mutations in MFN2 are the underlying cause of Charcot-Marie-Tooth neuropathy type 2A (CMT2A). However, there has been no reports investigating the MFN2 genes in Korean CMT patients. Therefore, we investigated to find the clinical and genetic characteristics in Korean patients with the MFN2 gene mutation. Methods: We examined the mutations of the MFN2 gene in 137 Korean CMT families. According to criteria from the European CMT consortium, CMT2 was 45 families. Mutations were confirmed by both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. Results: Eight pathogenic mutations were found in 10 families. Six mutations (Leu92Pro, Gly127Asp, His165Arg, Ser263Pro, Arg364Trp, Met376Thr) were determined to be novel, and those were not detected in the 100 healthy controls. A de novo missense mutation was found in three CMT families (30%). The frequency of the MFN2 mutation was 22.2%, which was higher than those found in the Cx32 mutation. In CMT2A, the frequencies with early age at onset (<10 years) and flat feet were 46.2%. Conclusions: We found MFN2 mutations in patients with sporadic or dominantly inherited CMT. In the majority of cases with CMT type 2, the axonal neuropathy, may be due to MFN2 mutations.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Sunwoo, Il Nam(선우일남)
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