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Article

A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

Biochimica et biophysica acta - 1 Feb 2012

Ngu Lock Hock, Nijtmans Leo G, Distelmaier Felix, Venselaar Hanka, van Emst-de Vries Sjenet E, van den Brand Mariël A M, Stoltenborg Berendien J M, Wintjes Liesbeth T, Willems Peter H, van den Heuvel Lambertus P, Smeitink Jan A, Rodenburg Richard J T

Abstract excerpt

In this study, we investigated the pathogenicity of a homozygous Asp446Asn mutation in the NDUFS2 gene of a patient with a mitochondrial respiratory chain complex I deficiency. The clinical, biochemical, and genetic features of the NDUFS2 patient were compared with those of 4 patients with previously identified NDUFS2 mutations. All 5 patients presented with Leigh syndrome. In addition, 3 out of 5 showed...

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Share to Cardiomyopathy, Hypertrophic
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Membrane Potential, Mitochondrial

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Share to NADH Dehydrogenase

Share to Transduction, Genetic

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Source

Identifiers

PMID: 22036843
DOI: 10.1016/j.bbadis.2011.10.012

Genes

NDUFS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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