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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
구혜수유정현최병옥
SCOPUS Author ID
구혜수scopus; 유정현scopus
Issue Date
2011
Journal Title
Journal of the Peripheral Nervous System
ISSN
1085-9489JCR Link
Citation
vol. 16, no. 2, pp. 143 - 146
Indexed
SCIE; SCOPUS WOS scopus
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
Appears in Collections:
의과대학 > 의학과 > Journal papers
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