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Article

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.

European journal of human genetics : EJHG - 1 Mar 2011

Hoefs Saskia J G, van Spronsen Francjan J, Lenssen Ellen W H, Nijtmans Leo G, Rodenburg Richard J, Smeitink Jan A M, van den Heuvel Lambert P

Abstract excerpt

Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the mitochondrial DNA and the nuclear-encoded subunits of complex I. We identified compound-heterozygous mutations in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21150889
DOI: 10.1038/ejhg.2010.204
PMCID: PMC3061993

Genes

NDUFA10

Provenance

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NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.PMID 21150889Read ↗

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