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NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1

Authors
 Ji Soo Shin  ;  Ki Wha Chung  ;  Sun Young Cho  ;  Jiyoung Yun  ;  Su Jin Hwang  ;  Sung Hee Kang  ;  En Min Cho  ;  Seung-Min Kim  ;  Byung-Ok Choi 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.53(10) : 936-940, 2008 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2008
MeSH
Adolescent ; Adult ; Amino Acid Sequence ; Charcot-Marie-Tooth Disease/genetics* ; Charcot-Marie-Tooth Disease/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Electrophysiology ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation/genetics* ; Neurofilament Proteins/genetics* ; Pedigree ; Sequence Homology, Amino Acid
Keywords
Adolescent ; Adult ; Amino Acid Sequence ; Charcot-Marie-Tooth Disease/genetics* ; Charcot-Marie-Tooth Disease/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Electrophysiology ; Female ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Mutation/genetics* ; Neurofilament Proteins/genetics* ; Pedigree ; Sequence Homology, Amino Acid
Abstract
Charcot-Marie-Tooth disease (CMT) is classified into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2). Mutations in the neurofilament light chain polypeptide (NEFL) gene are present in CMT2E and CMT1F neuropathies. Two types of Pro22 mutations have been previously reported: Pro22Ser in CMT2E with giant axons, and Pro22Thr in CMT1F. In this study, we identified another Pro22 mutation, Pro22Arg, in a Korean CMT1 family. An investigation to identify the clinical and pathological characteristics of the Pro22Arg revealed that it is associated with demyelinating neuropathy features in CMT1F. Histopathological findings showed onion bulb formations but no giant axons. It appears that the Pro22 mutations may influence not only the Thr-Pro phosphorylation site by proline-directed protein kinases but also other structural alteration of the NEFL protein in a different way
Full Text
http://www.nature.com/jhg/journal/v53/n10/full/jhg2008119a.html
DOI
10.1007/s10038-008-0333-8
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
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/106621
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