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.
|Number of pages||3|
|Publication status||Published - Jul 2006|
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