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

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.

journal_name

Neurology

journal_title

Neurology

authors

Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MT

doi

10.1212/01.wnl.0000225077.40532.a5

subject

Has Abstract

pub_date

2006-07-25 00:00:00

pages

353-5

issue

2

eissn

0028-3878

issn

1526-632X

pii

67/2/353

journal_volume

67

pub_type

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