Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

P H Meijerink; J E Hoogendijk; A A Gabreëls-Festen; I Zorn; H Veldman; F Baas; M de Visser; P A Bolhuis

doi:10.1002/ana.410400418

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

P H Meijerink, J E Hoogendijk, A A Gabreëls-Festen, I Zorn, H Veldman, F Baas, M de Visser, P A Bolhuis

Neurology & Neurosurgery

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

Abstract

Mutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon--Arg69His and Arg69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.

Original language	English
Pages (from-to)	672-5
Number of pages	4
Journal	Annals of Neurology
Volume	40
Issue number	4
DOIs	https://doi.org/10.1002/ana.410400418
Publication status	Published - 1996

Keywords

Adult
Charcot-Marie-Tooth Disease
Chromosome Aberrations
Chromosome Disorders
Chromosomes, Human, Pair 1
Codon
Female
Humans
Infant
Microscopy, Electron
Myelin P0 Protein
Myelin Sheath
Point Mutation
Sural Nerve
Case Reports
Journal Article
Research Support, Non-U.S. Gov't

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title = "Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies",

abstract = "Mutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon--Arg69His and Arg69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.",

keywords = "Adult, Charcot-Marie-Tooth Disease, Chromosome Aberrations, Chromosome Disorders, Chromosomes, Human, Pair 1, Codon, Female, Humans, Infant, Microscopy, Electron, Myelin P0 Protein, Myelin Sheath, Point Mutation, Sural Nerve, Case Reports, Journal Article, Research Support, Non-U.S. Gov't",

author = "Meijerink, {P H} and Hoogendijk, {J E} and Gabre{\"e}ls-Festen, {A A} and I Zorn and H Veldman and F Baas and {de Visser}, M and Bolhuis, {P A}",

year = "1996",

doi = "10.1002/ana.410400418",

language = "English",

volume = "40",

pages = "672--5",

journal = "Annals of Neurology",

issn = "0364-5134",

publisher = "John Wiley & Sons Inc.",

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TY - JOUR

T1 - Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

AU - Meijerink, P H

AU - Hoogendijk, J E

AU - Gabreëls-Festen, A A

AU - Zorn, I

AU - Veldman, H

AU - Baas, F

AU - de Visser, M

AU - Bolhuis, P A

PY - 1996

Y1 - 1996

N2 - Mutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon--Arg69His and Arg69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.

AB - Mutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21-q23 have been found with the hereditary demyelinating polyneuropathy Charcot-Marie-Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon--Arg69His and Arg69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.

KW - Adult

KW - Charcot-Marie-Tooth Disease

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Chromosomes, Human, Pair 1

KW - Codon

KW - Female

KW - Humans

KW - Infant

KW - Microscopy, Electron

KW - Myelin P0 Protein

KW - Myelin Sheath

KW - Point Mutation

KW - Sural Nerve

KW - Case Reports

KW - Journal Article

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

U2 - 10.1002/ana.410400418

DO - 10.1002/ana.410400418

M3 - Article

C2 - 8871588

SN - 0364-5134

VL - 40

SP - 672

EP - 675

JO - Annals of Neurology

JF - Annals of Neurology

IS - 4

ER -

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

Abstract

Keywords

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