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

Bienfait, H. M. E.; Faber, C. G.; Baas, F.; Gabreëls-Festen, A. A. W. M.; Koelman, J. H. T. M.; Hoogendijk, J. E.; Verschuuren, J. J.; Wokke, J. H. J.; de Visser, M.
April 2006
Journal of Neurology, Neurosurgery & Psychiatry;Apr2006, Vol. 77 Issue 4, p534
Academic Journal
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.


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