Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation
Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation
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DOI：
10.1136/jnnp.2005.073437
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发表时间：
2006-04-01
影响因子：
11
通讯作者：
de Visser, M
中科院分区：
文献类型：
--
作者：
Bienfait, HME;Faber, CG;de Visser, M
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.
