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A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

Authors
 Ki Wha Chung  ;  Seung Min Kim  ;  Il Nam Sunwoo  ;  Sun Young Cho  ;  Su Jin Hwang  ;  Joonki Kim  ;  Sung Hee Kang  ;  Kee-Duk Park  ;  Kyoung-Gyu Choi  ;  Il Saing Choi  ;  Byung-Ok Choi 
Citation
 JOURNAL OF HUMAN GENETICS, Vol.53(4) : 360-364, 2008 
Journal Title
 JOURNAL OF HUMAN GENETICS 
ISSN
 1434-5161 
Issue Date
2008
MeSH
Adolescent ; Amino Acid Sequence ; Base Sequence ; Charcot-Marie-Tooth Disease/genetics* ; Charcot-Marie-Tooth Disease/pathology ; DNA Mutational Analysis ; Electrophysiology ; Female ; Genes, Dominant/genetics ; Humans ; Korea ; Male ; Middle Aged ; Molecular Sequence Data ; Nerve Tissue Proteins/genetics* ; Pedigree ; Point Mutation/genetics* ; Sural Nerve/ultrastructure
Keywords
Autosomal dominant ; Charcot-Marie-Tooth disease ; Ganglioside-induced differentiation-associated protein 1 ; Mutation ; Phenotype
Abstract
A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP1 mutations in autosomal dominant (AD) CMT. Here, we report an AD CMT family with a novel Q218E mutation in the GDAP1 gene. The mutation was located within the well-conserved glutathione S-transferase (GST) core region and co-segregated with the affected members in the pedigree. The affected AD CMT individuals had a later disease onset and much milder phenotypes than the AR CMT patients, and the histopathologic examination revealed both axonal degeneration and demyelination.
Full Text
http://www.nature.com/jhg/journal/v53/n4/full/jhg200844a.html
DOI
10.1007/s10038-008-0249-3
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/22282913/106607
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