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Variable phenotypes are associated with PMP22 missense mutations

Russo, M; Laura, M; Polke, JM; Davis, MB; Blake, J; Brandner, S; Hughes, RAC; ... Reilly, MM; + view all (2011) Variable phenotypes are associated with PMP22 missense mutations. NEUROMUSCULAR DISORD , 21 (2) 106 - 114. 10.1016/j.nmd.2010.11.011.

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Abstract

Charcot-Marie-Tooth disease (CMT) is the commonest hereditary neuropathy encompassing a large group of clinically and genetically heterogeneous disorders. The commonest form of CMT, CMTI A, is usually caused by a 1.4 megabase duplication of chromosome 17 containing the PMP22 gene. Mutations of PMP22 are a less common cause of CMT. We describe clinical, electrophysiological and molecular findings of 10 patients carrying PMP22 missense mutations. The phenotype varied from mild hereditary neuropathy with liability to pressure palsies (HNPP) to severe CMT I. We identified six different point mutations, including two novel mutations. Three families were also found to harbour a Thr118Met mutation. Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance. Crown Copyright (C) 2010 Published by Elsevier B.V. All rights reserved.

Type: Article
Title: Variable phenotypes are associated with PMP22 missense mutations
DOI: 10.1016/j.nmd.2010.11.011
Keywords: Charcot-Marie-Tooth disease, PMP22, HNPP, MARIE-TOOTH-DISEASE, DEJERINE-SOTTAS-DISEASE, PROTEIN 22 GENE, POINT MUTATION, HEREDITARY NEUROPATHY, PRESSURE PALSIES, LIABILITY, HNPP
UCL classification: UCL > Provost and Vice Provost Offices
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Neurodegenerative Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1304680
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