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

H. M. E. Bienfait; C. G. Faber; F. Baas; A. A. W. M. Gabreëls-Festen; J. H. T. M. Koelman; J. E. Hoogendijk; J. J. Verschuuren; J. H. J. Wokke; M. de Visser

doi:https://doi.org/10.1136/jnnp.2005.073437

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

H. M. E. Bienfait, C. G. Faber, F. Baas, A. A. W. M. Gabreëls-Festen, J. H. T. M. Koelman, J. E. Hoogendijk, J. J. Verschuuren, J. H. J. Wokke, M. de Visser

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

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

Original language	English
Pages (from-to)	534-537
Journal	Journal of neurology, neurosurgery, and psychiatry
Volume	77
Issue number	4
DOIs	https://doi.org/10.1136/jnnp.2005.073437
Publication status	Published - 2006

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https://doi.org/10.1136/jnnp.2005.073437

Cite this

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. (2006). Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation. Journal of neurology, neurosurgery, and psychiatry, 77(4), 534-537. https://doi.org/10.1136/jnnp.2005.073437

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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",

author = "Bienfait, {H. M. E.} and Faber, {C. G.} and F. Baas and Gabre{\"e}ls-Festen, {A. A. W. M.} and Koelman, {J. H. T. M.} and Hoogendijk, {J. E.} and Verschuuren, {J. J.} and Wokke, {J. H. J.} and {de Visser}, M.",

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doi = "https://doi.org/10.1136/jnnp.2005.073437",

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AU - Faber, C. G.

AU - Baas, F.

AU - Gabreëls-Festen, A. A. W. M.

AU - Koelman, J. H. T. M.

AU - Hoogendijk, J. E.

AU - Verschuuren, J. J.

AU - Wokke, J. H. J.

AU - de Visser, M.

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AB - 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

U2 - https://doi.org/10.1136/jnnp.2005.073437

DO - https://doi.org/10.1136/jnnp.2005.073437

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