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Article

Analysis of the mitochondrial encoded subunits of complex I in 20 patients with a complex I deficiency.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2004

Meulemans Ann, Lissens Willy, Van Coster Rudy, De Meirleir Linda, Smet Joél, Nassogne Marie-Cécile, Liebaers Inge, Seneca Sara

Abstract excerpt

NADH-ubiquinone oxidoreductase or complex I deficiency is a frequently diagnosed enzyme defect of the oxidative phosphorylation (OXPHOS) system in humans. However, in many patients, with complex I deficiency and clinical symptoms suggestive of mitochondrial disease, often no genetic defect can be found after investigation of the most common mitochondrial DNA (mtDNA) mutations. In this study, 20 patients were...

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Identifiers

PMID: 15542384
DOI: 10.1016/j.ejpn.2004.07.006

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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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