title: Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.
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.
authors.affiliation: Department of Neurological and Behavioural Sciences, Medical School, University of Siena, Siena, Italy. federico@unisi.it
authors.forename: A
authors.initials: A
authors.lastname: Federico
authors.forename: O
authors.initials: O
authors.lastname: Scali
authors.forename: M L
authors.initials: ML
authors.lastname: Stromillo
authors.forename: C
authors.initials: C
authors.lastname: Di Perri
authors.forename: S
authors.initials: S
authors.lastname: Bianchi
authors.forename: F
authors.initials: F
authors.lastname: Sicurelli
authors.forename: N
authors.initials: N
authors.lastname: De Stefano
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D002675:Child, Preschool; D015140:Dementia, Vascular / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D003711:Demyelinating Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D020717:Eukaryotic Initiation Factor-2B