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. Gabreels-Festen; J.H. Koelman; J.E. Hoogendijk; J.J. Verschuuren; J.H.J. Wokke; M. de Visser

doi: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. Gabreels-Festen, J.H. Koelman, J.E. Hoogendijk, J.J. Verschuuren, J.H.J. Wokke, M. de Visser

Neurology & Neurosurgery

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

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
Number of pages	4
Journal	Journal of Neurology, Neurosurgery and Psychiatry
Volume	77
Issue number	4
DOIs	https://doi.org/10.1136/jnnp.2005.073437
Publication status	Published - Apr 2006

Keywords

Adult
Age of Onset
Aged
Axons
Biopsy
Charcot-Marie-Tooth Disease
Cohort Studies
Connexins
DNA Mutational Analysis
Demyelinating Diseases
Female
Humans
Intracellular Signaling Peptides and Proteins
Male
Median Nerve
Middle Aged
Myelin P0 Protein
Myelin Proteins
Neural Conduction
Pedigree
Phenotype
Phosphoproteins
Point Mutation
Polymorphism, Single-Stranded Conformational
Sural Nerve
Ulnar Nerve
Journal Article
Research Support, Non-U.S. Gov't

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10.1136/jnnp.2005.073437

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Bienfait, H. M. E., Faber, C. G., Baas, F., Gabreels-Festen, A. A. W. M., Koelman, J. H., 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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title = "Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation",

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.",

keywords = "Adult, Age of Onset, Aged, Axons, Biopsy, Charcot-Marie-Tooth Disease, Cohort Studies, Connexins, DNA Mutational Analysis, Demyelinating Diseases, Female, Humans, Intracellular Signaling Peptides and Proteins, Male, Median Nerve, Middle Aged, Myelin P0 Protein, Myelin Proteins, Neural Conduction, Pedigree, Phenotype, Phosphoproteins, Point Mutation, Polymorphism, Single-Stranded Conformational, Sural Nerve, Ulnar Nerve, Journal Article, Research Support, Non-U.S. Gov't",

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

year = "2006",

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doi = "10.1136/jnnp.2005.073437",

language = "English",

volume = "77",

pages = "534--537",

journal = "Journal of Neurology, Neurosurgery and Psychiatry",

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T1 - Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

AU - Bienfait, H.M.E.

AU - Faber, C.G.

AU - Baas, F.

AU - Gabreels-Festen, A.A.W.M.

AU - Koelman, J.H.

AU - Hoogendijk, J.E.

AU - Verschuuren, J.J.

AU - Wokke, J.H.J.

AU - de Visser, M.

PY - 2006/4

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N2 - 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.

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.

KW - Adult

KW - Age of Onset

KW - Aged

KW - Axons

KW - Biopsy

KW - Charcot-Marie-Tooth Disease

KW - Cohort Studies

KW - Connexins

KW - DNA Mutational Analysis

KW - Demyelinating Diseases

KW - Female

KW - Humans

KW - Intracellular Signaling Peptides and Proteins

KW - Male

KW - Median Nerve

KW - Middle Aged

KW - Myelin P0 Protein

KW - Myelin Proteins

KW - Neural Conduction

KW - Pedigree

KW - Phenotype

KW - Phosphoproteins

KW - Point Mutation

KW - Polymorphism, Single-Stranded Conformational

KW - Sural Nerve

KW - Ulnar Nerve

KW - Journal Article

KW - Research Support, Non-U.S. Gov't

U2 - 10.1136/jnnp.2005.073437

DO - 10.1136/jnnp.2005.073437

M3 - Article

C2 - 16543539

SN - 0022-3050

VL - 77

SP - 534

EP - 537

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

IS - 4

ER -

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

Abstract

Keywords

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