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Article

Baculovirus complementation restores a novel<i>NDUFAF2</i>mutation causing complex I deficiency

21 Apr 2009

Abstract excerpt

Mitochondrial complex I deficiency is the most common defect of the OXPHOS system. We report a patient from consanguineous parents with a complex I deficiency expressed in skin fibroblasts. Homozygosity mapping revealed several homozygous regions with candidate genes, including the gene encoding an assembly factor for complex I, NDUFAF2. Screening of this gene on genomic DNA revealed a homozygous stop-codon...

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PMID: 19384974
DOI: 10.1002/humu.21037

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