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Article

NDUFA2 complex I mutation leads to Leigh disease.

American journal of human genetics - 1 Jun 2008

Hoefs Saskia J G, Dieteren Cindy E J, Distelmaier Felix, Janssen Rolf J R J, Epplen Andrea, Swarts Herman G P, Forkink Marleen, Rodenburg Richard J, Nijtmans Leo G, Willems Peter H, Smeitink Jan A M, van den Heuvel Lambert P

Abstract excerpt

Mitochondrial isolated complex I deficiency is the most frequently encountered OXPHOS defect. We report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Because the parents were consanguineous, we performed homozygosity mapping to identify homozygous regions containing candidate genes such as NDUFA2 on chromosome 5. Screening of this gene on genomic DNA...

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Source

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Identifiers

PMID: 18513682
DOI: 10.1016/j.ajhg.2008.05.007
PMCID: PMC2427319

Genes

NDUFA2

Provenance

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Related research

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NDUFA2 complex I mutation leads to Leigh disease.PMID 18513682Read ↗

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