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Article

Secondary metabolic effects in complex I deficiency.

Annals of neurology - 1 Oct 2005

Esteitie Nayla, Hinttala Reetta, Wibom Rolf, Nilsson Helene, Hance Nicole, Naess Karin, Teär-Fahnehjelm Kristina, von Döbeln Ulrika, Majamaa Kari, Larsson Nils-Göran

Abstract excerpt

The objective of this study was to investigate clinical, biochemical, and genetic features in 7 probands (a total of 11 patients) with nicotine-amide adenine dinucleotide (NADH) dehydrogenase (complex I) deficiency. We screened the mitochondrial DNA for mutations and found pathogenic mutations in complex I genes (mitochondrial NADH dehydrogenase subunit (MTND) genes) in three probands. The 10191T>C mutation in...

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PMID: 16044424
DOI: 10.1002/ana.20570

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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.

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