HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS REGISTER		Author Keyword(s) Vol Page [Advanced]

This Article Full Text Full Text (PDF) Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders Download to citation manager Request Permissions Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Bienfait, H M E Articles by de Visser, M Search for Related Content PubMed PubMed Citation Articles by Bienfait, H M E Articles by de Visser, M Related Collections Genetics Neuromuscular disease

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

¹ Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands
² University Medical Centre Utrecht, Utrecht, Netherlands
³ University Hospital Maastricht, Maastricht, Netherlands
⁴ Leiden University Medical Centre, Leiden, Netherlands
⁵ Institute of Neurology, University Medical Centre St Radboud, Nijmegen, Netherlands
⁶ Neurogenetics Laboratory, Academic Medical Centre, University of Amsterdam, Netherlands

Correspondence to:
Correspondence to:
Professor M de Visser
Department of Neurology H2-222, Academic Medical Centre, PO Box 22660, 1100 DD Amsterdam, Netherlands; M.deVisser{at}amc.uva.nl

ABSTRACT
A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons, apart from securing stability of the myelin layer.

Abbreviations: CMT, Charcot-Marie-Tooth disease; DSS, Dejerine-Sottas syndrome; MNCV, motor nerve conduction velocity; SSCP, single strand confirmation polymorphism analysis

Keywords: Charcot-Marie-Tooth disease; myelin protein zero gene; MPZ

This article has been cited by other articles:

				C. L. Bennett, V. H. Lawson, K. L. Brickell, K. Isaacs, W. Seltzer, H. P. Lipe, M. D. Weiss, G. T. Carter, K. M. Flanigan, P. F. Chance, et al. Late-onset hereditary axonal neuropathies Neurology, July 1, 2008; 71(1): 14 - 20. [Abstract] [Full Text] [PDF]

				M. Laura, M. Milani, M. Morbin, M. Moggio, M. Ripolone, S. Jann, V. Scaioli, F. Taroni, and D. Pareyson Rapid progression of late onset axonal Charcot Marie Tooth disease associated with a novel MPZ mutation in the extracellular domain J. Neurol. Neurosurg. Psychiatry, November 1, 2007; 78(11): 1263 - 1266. [Abstract] [Full Text] [PDF]