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Article

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Journal of medical genetics - 1 Apr 2012

Haack Tobias B, Haberberger Birgit, Frisch Eva-Maria, Wieland Thomas, Iuso Arcangela, Gorza Matteo, Strecker Valentina, Graf Elisabeth, Mayr Johannes A, Herberg Ulrike, Hennermann Julia B, Klopstock Thomas, Kuhn Klaus A, Ahting Uwe, Sperl Wolfgang, Wilichowski Ekkehard, Hoffmann Georg F, Tesarova Marketa, Hansikova Hana, Zeman Jiri, Plecko Barbara, Zeviani Massimo, Wittig Ilka, Strom Tim M, Schuelke Markus, Freisinger Peter, Meitinger Thomas, Prokisch Holger

Abstract excerpt

BACKGROUND: Next generation sequencing has become the core technology for gene discovery in rare inherited disorders. However, the interpretation of the numerous sequence variants identified remains challenging. We assessed the application of exome sequencing for diagnostics in complex I deficien...

Read the complete abstract on PubMed

Topics

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Share to Amino Acid Substitution
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Mitochondrial Diseases

Share to Mutation

Share to NADH Dehydrogenase

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 22499348
DOI: 10.1136/jmedgenet-2012-100846

Genes

ACAD9
MTFMT
NDUFB3
NDUFS3
NDUFS8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22499348-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.PMID 22499348Read ↗

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Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.Semantic proximity Read ↗

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Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial diseaseSemantic proximity Read ↗

Targeted exome sequencing of suspected mitochondrial disorders.Semantic proximity Read ↗

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.Semantic proximity Read ↗

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.Semantic proximity Read ↗

Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.Semantic proximity Read ↗

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Semantic proximity Read ↗

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.Semantic proximity Read ↗

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