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의과대학
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Journal papers
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Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
Title
Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations
Authors
Chung K.W.
;
Hyun Y.S.
;
Lee H.J.
;
Jung H.-K.
;
Koo H.
;
Yoo J.H.
;
Kim S.-B.
;
Park C.I.
;
Kim H.N.
;
Choi B.-O.
Ewha Authors
구혜수
;
유정현
;
최병옥
SCOPUS Author ID
구혜수
; 유정현
; 최병옥
Issue Date
2011
Journal Title
Journal of the Peripheral Nervous System
ISSN
1085-9489
Citation
Journal of the Peripheral Nervous System vol. 16, no. 2, pp. 143 - 146
Indexed
SCIE; SCOPUS
Document Type
Article
Abstract
Various phenotypes have been reported in Charcot-Marie-Tooth (CMT) disease carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene. Here, we report two recessive intermediate Charcot-Marie-Tooth (RICMT) patients with GDAP1 missense mutations: a His256Arg homozygous mutation (c.767A>G + c.767A>G) and compound mutations of heterozygous Pro111His (c.332C>A) and Val219Gly (c.656T>G). The Pro111His and Val219Gly are unreported mutations, but the His256Arg was previously reported. In both patients, histopathological findings showed well-documented features of mixed demyelinating and axonal neuropathies, and nerve conduction velocities fall in the intermediate range. In addition, the patterns of fatty substitutions in leg magnetic resonance imaging (MRI) were different by the mutation sites within the same GDAP1 gene. © 2011 Peripheral Nerve Society.
DOI
10.1111/j.1529-8027.2011.00329.x
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