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Article

Genetic and clinical heterogeneity in eIF2B-related disorder.

Journal of child neurology - 1 Feb 2008

Maletkovic Jelena, Schiffmann Raphael, Gorospe J Rafael, Gordon Erynn S, Mintz Michelle, Hoffman Eric P, Alper Gulay, Lynch David R, Singhal Bhim S, Harding Cary, Amartino Hernan, Brown Candida M, Chan Alicia, Renaud Deborah, Geraghty Michael, Jensen Lloyd, Senbil Nesrin, Kadom Nadja, Nazarian Javad, Yuanjian Feng, Zuyi Wang, Hartka Thomas, Morizono Hiroki, Vanderver Adeline

Abstract excerpt

Eukaryotic initiation factor 2B (eIF2B)-related disorders are heritable white matter disorders with a variable clinical phenotype (including vanishing white matter disease and ovarioleukodystrophy) and an equally heterogeneous genotype. We report 9 novel mutations in the EIF2B genes in our subject population, increasing the number of known mutations to more than 120. Using homology modeling, we have analyzed the...

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Identifiers

PMID: 18263758
DOI: 10.1177/0883073807308705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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