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Neurology. 2006 Jul 25;67(2):353-5.

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

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  • 1Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy. federico@unisi.it

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.

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