Zis, P;
Reilly, MM;
Rao, DG;
Tomaselli, P;
Rossor, AM;
Hadjivassiliou, M;
(2017)
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Journal of the Peripheral Nervous System
, 22
(3)
pp. 224-225.
10.1111/jns.12222.
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Abstract
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
| Type: | Article |
|---|---|
| Title: | A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1111/jns.12222 |
| Publisher version: | http://doi.org/10.1111/jns.12222 |
| Language: | English |
| Additional information: | Copyright © 2017 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | CMT, FGD4 gene, mutation, neuropathy |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/1559006 |
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