Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
case_report · Level V
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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.
Medical subject headings
- Dementia, Vascular
- Demyelinating Diseases
- Eukaryotic Initiation Factor-2B
- Peripheral Nervous System Diseases