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.
Federico, A., Scali, O., Stromillo, M.l., DI PERRI, C., Bianchi, S., Sicurelli, F., et al. (2006). Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. NEUROLOGY, 67(2), 353-355 [10.1212/01.wnl.0000225077.40532.a5].
Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation
FEDERICO, ANTONIO;STROMILLO ML;DE STEFANO, NICOLA;MALANDRINI, ALESSANDRO;DOTTI, MARIA
2006-01-01
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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https://hdl.handle.net/11365/20542
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