Peripheral myelin modification in CMT1B correlates with MPZ gene mutations

被引：27

作者：

Lagueny, A ^{[1
]}

Latour, P

Vital, A

Rajabally, Y

Le Masson, G

Ferrer, X

Bernard, I

Julien, J

Vital, C

Vandenberghe, A

机构：

[1] CHU Bordeaux, Hop Haut Leveque, Neurol Serv, F-33604 Pessac, France

[2] Hop Antiquaille, Unite Neurogenet Mol, F-69005 Lyon, France

[3] Univ Bordeaux 2, Neurophysiol Lab, F-33000 Bordeaux, France

来源：

NEUROMUSCULAR DISORDERS | 1999年 / 9卷 / 6-7期

关键词：

Charcot-Marie-Tooth disease; myelin; Po glycoprotein;

D O I：

10.1016/S0960-8966(99)00031-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Morphological modifications were investigated in the peripheral nerve of three unrelated patients with CMT1B. In two patients, molecular genetic analysis showed an Arg98His mutation in the extracellular domain of MPZ, associated with irregularly uncompacted lamellae. This observation confirms previous studies of a well-defined correlation between mutations and morphological phenotypes. In the third patient, a de novo Asp109Asn mutation was associated with abnormally thick myelin sheaths. This adds to the known list of MPZ gene mutations associated with this morphological phenotype. (C) 1999 Elsevier Science B.V. All rights reserved.

引用

页码：361 / 367

页数：7

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