Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation

被引：13

作者：

Federico, A. ^{[1
]}

Scali, O. ^{[1
]}

Stromillo, M. L. ^{[1
]}

Di Perri, C. ^{[1
]}

Bianchi, S. ^{[1
]}

Sicurelli, F. ^{[1
]}

De Stefano, N. ^{[1
]}

Malandrini, A. ^{[1
]}

Dotti, M. T. ^{[1
]}

机构：

[1] Univ Siena, Sch Med, Dept Neurol & Behav Sci, I-53100 Siena, Italy

来源：

NEUROLOGY | 2006年 / 67卷 / 02期

关键词：

D O I：

10.1212/01.wnl.0000225077.40532.a5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA -> CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.

引用

页码：353 / 355

页数：3

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