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Article

eIF2B-related disorders: antenatal onset and involvement of multiple organs.

American journal of human genetics - 1 Nov 2003

van der Knaap Marjo S, van Berkel Carola G M, Herms Jochen, van Coster Rudy, Baethmann Martina, Naidu Sakkubai, Boltshauser Eugen, Willemsen Michèl A A P, Plecko Barbara, Hoffmann Georg F, Proud Christopher G, Scheper Gert C, Pronk Jan C

Abstract excerpt

Leukoencephalopathy with vanishing white matter, also called "childhood ataxia with central nervous system hypomyelination," is the first human disease related to mutations in any of the five genes encoding subunits of eukaryotic initiation factor eIF2B or any translation factor at all. eIF2B is...

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Identifiers

PMID: 14566705
DOI: 10.1086/379524
PMCID: PMC1180499

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14566705-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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eIF2B-related disorders: antenatal onset and involvement of multiple organs.PMID 14566705Read ↗

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Leukoencephalopathy with vanishing white matter due to homozygous EIF2B2 gene mutation. First Polish cases.Semantic proximity Read ↗

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