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증례보고: Asp38Ala 돌연변이로 인한 비Val30Met TTR형의 가족성 아밀로이드 다발성신경병증

Other Titles
 Case Report: Non-Val30Met TTR Type Familial Amyloid Polyneuropathy with Asp38Ala Mutation 
Authors
 박천웅  ;  박은숙  ;  최자영  ;  조유나  ;  나동욱 
Citation
 Journal of the Korean Association of EMG-Electrodiagnostic Medicine (대한근전도 전기진단의학회지), Vol.18(1) : 28-31, 2016 
Journal Title
 Journal of the Korean Association of EMG-Electrodiagnostic Medicine (대한근전도 전기진단의학회지) 
ISSN
 1229-6066 
Issue Date
2016
Keywords
amyloid neuropathies ; transthyretin-related amyloid fibril protein
Abstract
There are three precursor proteins of amyloid inducing familial amyloid polyneuropathy (FAP): transthyretin (TTR), Apolipoprotein A-1, and Gelsolin. Abnormal TTR expression is most frequently discovered in FAP and the genotypes are correlated with clinical features. Since the substitution of methionine for valine at position 30 is most common gene mutation, TTR type FAP is divided into Val30Met type FAP and non-Val30Met type FAP. Asp38Ala mutation found in non-Val30Met type FAP usually accompanied the autonomic symptoms and only reported in male persons in Korea. We reported the clinical characteristics and disease progression of first Korean female person with Asp38Ala mutation who didn’t show autonomic symptoms.
Files in This Item:
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DOI
10.18214/jkaem.2016.18.1.28
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Rha, Dong Wook(나동욱) ORCID logo https://orcid.org/0000-0002-7153-4937
Park, Eun Sook(박은숙) ORCID logo https://orcid.org/0000-0002-9144-3063
Park, Chunung(박천웅)
Cho, Yoona(조유나)
Choi, Ja Young(최자영)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/165005
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