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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Child, Preschool
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Dementia, Vascular / complications
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Dementia, Vascular / diagnosis*
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Dementia, Vascular / genetics*
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Demyelinating Diseases / complications
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Demyelinating Diseases / diagnosis*
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Demyelinating Diseases / genetics*
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Eukaryotic Initiation Factor-2B / genetics*
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Genetic Predisposition to Disease / genetics
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Humans
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Male
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Peripheral Nervous System Diseases / complications
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Peripheral Nervous System Diseases / diagnosis*
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Peripheral Nervous System Diseases / genetics*
Substances
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Eukaryotic Initiation Factor-2B