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Article

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.

Journal of inherited metabolic disease - 1 Jan 2003

Budde S M S, van den Heuvel L P W J, Smeets R J P, Skladal D, Mayr J A, Boelen C, Petruzzella V, Papa S, Smeitink J A M

Abstract excerpt

A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.

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Share to Electron Transport Complex I
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14765537
DOI: 10.1023/b:boli.0000010003.14113.af

Genes

NDUFS4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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