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Article

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Annals of neurology - 1 Feb 2001

Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stöckler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L

Abstract excerpt

Human complex I is built up and regulated by genes encoded by the mitochondrial DNA (mtDNA) as well as the nuclear DNA (nDNA). In recent years, attention mainly focused on the relation between complex I deficiency and mtDNA mutations. However, a high percentage of consanguinity and an autosomal-r...

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Share to Cardiomyopathies
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Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NADH, NADPH Oxidoreductases

Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 11220739
DOI: 10.1002/1531-8249(20010201)49:2<195::aid-ana39>3.0.co;2-m

Genes

NDUFS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11220739-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.PMID 11220739Read ↗

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Mitochondrial complex I deficiency of nuclear origin I. Structural genes.Semantic proximity Read ↗

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.Semantic proximity Read ↗

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