Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation

被引：18

作者：

Tachi, N

Kozuka, N

Ohya, K

Chiba, S

Sasaki, K

机构：

[1] Sapporo Med Univ, Sch Hlth Sci, Chuo Ku, Sapporo, Hokkaido 060, Japan

[2] Sapporo Med Univ, Sch Med, Dept Pediat, Chuo Ku, Sapporo, Hokkaido 060, Japan

[3] Hokkaido Prefectural Rehabil Ctr Phys Handicapped, Sapporo, Hokkaido, Japan

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1997年 / 153卷 / 01期

关键词：

tomaculous neuropathy; Mutation of the Po gene;

D O I：

10.1016/S0022-510X(97)00202-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutation of the myelin protein zero (MPZ) gene is associated with a small number of Charcot-Marie-Tooth (CMT) patients. We present a patient with Lys 130 Arg substitution in the extracellular domain who showed tomacula formation in biopsied sural nerve. CMT patients with mutations Ly 96 Glu, Lys 130 Arg and Ile 135 Leu showed tomaculous neuropathy. Present and previously reported investigations suggest that the pathological phenotypes of peripheral nerve are probably related to the mutations of the MPZ gene. (C) 1997 Elsevier Science B.V.

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收藏

页码：106 / 109

页数：4

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