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Article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

Nature genetics - 1 Dec 2010

Haack Tobias B, Danhauser Katharina, Haberberger Birgit, Hoser Jonathan, Strecker Valentina, Boehm Detlef, Uziel Graziella, Lamantea Eleonora, Invernizzi Federica, Poulton Joanna, Rolinski Boris, Iuso Arcangela, Biskup Saskia, Schmidt Thorsten, Mewes Hans-Werner, Wittig Ilka, Meitinger Thomas, Zeviani Massimo, Prokisch Holger

Abstract excerpt

An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of...

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Share to Acyl-CoA Dehydrogenases
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21057504
DOI: 10.1038/ng.706

Genes

ACAD9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21057504-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.PMID 21057504Read ↗

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