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한국인 Charcot-Marie-Tooth 환자에서 myelin protein zero(MPZ) 유전자 돌연변이 분석: 임상 및 전기생리학적 특성

Other Titles
 Myelin Protein Zero (MPZ ) Gene Analysis in Korean Patients with Charcot-Marie-Tooth - Clinical and Electrophysiological Characteristics - 
 최병옥  ;  정기화  ;  조현지  ;  박기덕  ;  이광수  ;  김승민  ;  선우일남 
 Journal of the Korean Neurological Association, Vol.23(2) : 232-240, 2005 
Journal Title
Journal of the Korean Neurological Association
Issue Date
Charcot-Marie-Tooth disease ; MPZ ; CMT1B ; CMT2 ; Mutation
Charcot-Marie-Tooth disease ; MPZ ; CMT1B ; CMT2 ; Mutation
Background: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. It is proposed that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes. In this study, we investigated to determine the clinical and electrophysiological characteristics in CMT patients with mutations in the MPZ gene. Methods: We examined mutations of MPZ, in 62 Korean families diagnosed as having CMT disease. Mutations were confirmed by through both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. Results: The three mutations (Asp118Asn, c.449-1G>T (3´-splice site), Lys236Glu), determined to be novel, were not detected in the 105 healthy controls. The mutation frequency of MPZ was similar as those found in several European populations. Electrophysiologically, 3´-splice site mutation (449-1G>T) showed the conduction block and moderate slowing nerve conduction velocities like that of CMT1B. However, the other mutations represented the electrophysiological features of CMT type 2. Conclusions: We report the identified three novel MPZ mutations in Korean CMT patients and the phenotype-genotype correlations based on nerve conduction studies.
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1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Sunwoo, Il Nam(선우일남)
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