Article
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
Neurology - 25 Jul 2006
Federico A, Scali O, Stromillo M L, Di Perri C, Bianchi S, Sicurelli F, De Stefano N, Malandrini A, Dotti M T
Abstract excerpt
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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