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

Title
A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease
Authors
Chung K.W.Kim S.M.Sunwoo I.N.Cho S.Y.Hwang S.J.Kim J.Kang S.H.Park K.-D.Choi K.-G.Choi I.S.Choi B.-O.
Ewha Authors
최경규박기덕최병옥
SCOPUS Author ID
최경규scopus; 박기덕scopus
Issue Date
2008
Journal Title
Journal of Human Genetics
ISSN
1434-5161JCR Link
Citation
vol. 53, no. 4, pp. 360 - 364
Indexed
SCI; SCIE; SCOPUS WOS scopus
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. © 2008 The Japan Society of Human Genetics and Springer.
DOI
10.1007/s10038-008-0249-3
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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