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Article

Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.

Journal of inherited metabolic disease - 1 May 2015

Scheffler Immo E

Abstract excerpt

Mitochondrial diseases due to a reduced capacity for oxidative phosphorylation were first identified more than 20 years ago, and their incidence is now recognized to be quite significant. In a large proportion of cases the problem can be traced to a complex I (NADH-CoQ oxidoreductase) deficiency (Phenotype MIM #252010). Because the complex consists of 44 subunits, there are many potential targets for pathogenic...

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PMID: 25224827
DOI: 10.1007/s10545-014-9768-6

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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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