Adult-onset vanishing white matter disease with novel missense mutations in a subunit of translational regulator, EIF2B4

Clin Genet. 2015 Oct;88(4):401-3. doi: 10.1111/cge.12554. Epub 2015 Jan 20.

Authors

Takamichi Kanbayashi¹, Fumiaki Saito¹, Takashi Matsukawa², Hiroshi Oba³, Keiichi Hokkoku¹, Yuki Hatanaka¹, Shoji Tsuji², Masahiro Sonoo¹

Affiliations

¹ Department of Neurology, Teikyo University School of Medicine, Tokyo, Japan.
² Department of Neurology, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
³ Department of Radiology, Teikyo University School of Medicine, Tokyo, Japan.

PMID: 25600065
DOI: 10.1111/cge.12554

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Eukaryotic Initiation Factor-2B / genetics*
Female
Genetic Association Studies
Humans
Leukoencephalopathies / genetics*
Middle Aged
Mutation, Missense*

Substances

Eukaryotic Initiation Factor-2B