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.
journal_name
Neurologyjournal_title
Neurologyauthors
Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MTdoi
10.1212/01.wnl.0000225077.40532.a5subject
Has Abstractpub_date
2006-07-25 00:00:00pages
353-5issue
2eissn
0028-3878issn
1526-632Xpii
67/2/353journal_volume
67pub_type
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