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

A. Federico; O. Scali; M. L. Stromillo; C. Di Perri; S. Bianchi; F. Sicurelli; N. De Stefano; A. Malandrini; M. T. Dotti

doi:10.1212/01.wnl.0000225077.40532.a5

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

A. Federico, O. Scali, M. L. Stromillo, C. Di Perri, S. Bianchi, F. Sicurelli, N. De Stefano, A. Malandrini, M. T. Dotti

Fondazione "Istituto Neurologico Casimiro Mondino"

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	353-355
Number of pages	3
Journal	Neurology
Volume	67
Issue number	2
DOIs	https://doi.org/10.1212/01.wnl.0000225077.40532.a5
Publication status	Published - Jul 2006

ASJC Scopus subject areas

Neuroscience(all)

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abstract = "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.",

author = "A. Federico and O. Scali and Stromillo, {M. L.} and {Di Perri}, C. and S. Bianchi and F. Sicurelli and {De Stefano}, N. and A. Malandrini and Dotti, {M. T.}",

year = "2006",

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AU - Federico, A.

AU - Scali, O.

AU - Stromillo, M. L.

AU - Di Perri, C.

AU - Bianchi, S.

AU - Sicurelli, F.

AU - De Stefano, N.

AU - Malandrini, A.

AU - Dotti, M. T.

PY - 2006/7

Y1 - 2006/7

N2 - 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.

AB - 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.

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

Abstract

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