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Article

Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.

Human mutation - 1 Jun 2003

Bénit Paule, Beugnot Réjane, Chretien Dominique, Giurgea Irina, De Lonlay-Debeney Pascale, Issartel Jean-Paul, Corral-Debrinski Marisol, Kerscher Stefan, Rustin Pierre, Rötig Agnès, Munnich Arnold

Abstract excerpt

Respiratory chain complex I deficiencies represent a genetically heterogeneous group of diseases resulting from mutations in either mitochondrial or nuclear DNA. Combination of denaturing high performance liquid chromatography and sequence analysis allowed us to show that a 4-bp deletion in intron 2 (IVS2+5_+8delGTAA) of the NDUFV2 gene (encoding NADH dehydrogenase ubiquinone flavoprotein 2) causes complex I...

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Source

Identifiers

PMID: 12754703
DOI: 10.1002/humu.10225

Genes

NDUFV2

Provenance

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.

Related research

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.PMID 12754703Read ↗

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

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.Semantic proximity Read ↗

Mitochondrial targeting of human NADH dehydrogenase (ubiquinone) flavoprotein 2 (NDUFV2) and its association with early-onset hypertrophic cardiomyopathy and encephalopathy.Semantic proximity Read ↗

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Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.Semantic proximity Read ↗

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