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Article

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Neurology - 11 May 2004

Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski C R, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu M-P, Rodriguez D, Boespflug-Tanguy O

Abstract excerpt

BACKGROUND: Recessive mutations in the five eucaryotic initiation factor 2B (eIF2B) subunits have been found in leukodystrophies of variable age at onset and severity. OBJECTIVES: To evaluate the clinical spectrum of eIF2B-related disorders and search for a phenotype-genotype correlation. METHODS: Ninety-three individuals (78 families) with an undetermined leukodystrophy were selected on MRI-based criteria of...

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Identifiers

PMID: 15136673
DOI: 10.1212/01.wnl.0000123259.67815.db

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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