A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths

被引：26

作者：

Nakagawa, M

Suehara, M

Saito, A

Takashima, H

Umehara, F

Saito, M

Kanzato, N

Matsuzaki, T

Takenaga, S

Sakoda, S

Izumo, S

Osame, M

机构：

[1] Kagoshima Univ, Sch Med, Div Mol Pathol & Genet Epidemiol, Ctr Chron Viral Dis, Kagoshima 890, Japan

[2] Okinawa Prefectural Nanbu Hosp, Natl Sanat, Okinawa, Japan

[3] Kagoshima Univ, Sch Med, Dept Internal Med 3, Kagoshima 890, Japan

来源：

NEUROLOGY | 1999年 / 52卷 / 06期

关键词：

D O I：

10.1212/WNL.52.6.1271

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We found the association of a heterozygous novel MPZ gene point mutation, Ile62Phe in exon 2, with autosomal dominant motor and sensory neuropathy with focally folded myelin sheaths. Family study revealed that de novo Ile62Phe mutation on the MPZ gene occurred in the proband and was inherited by her children with early onset slowly progressive neuropathy. Our study suggests that the characteristic pathologic findings of the sural nerve in these patients are closely related to the site and nature of amino acid substitutions of the MPZ gene.

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页码：1271 / 1275

页数：5

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