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새로 발견된 PMP22 유전자의 Frame Shift 돌연변이(Ala106fs)를 보인 Charcot-Marie-Tooth 1A

Other Titles
 Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene 
Authors
 최병옥  ;  정기화  ;  선우일남  ;  이미선  ;  김용성  ;  김승민  ;  최경규  ;  박기덕 
Citation
 Journal of the Korean Neurological Association, Vol.22(6) : 673-676, 2004 
Journal Title
 Journal of the Korean Neurological Association 
ISSN
 1225-7044 
Issue Date
2004
Keywords
CMT1A ; PMP22 ; Deafness ; Frame shift mutation
Abstract
Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.
Files in This Item:
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Appears in Collections:
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)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/112028
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