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Article

Clinical and molecular findings in children with complex I deficiency.

Biochimica et biophysica acta - 6 Dec 2004

Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati M A, Uziel G, Zeviani M

Abstract excerpt

Isolated complex I deficiency, the most frequent OXPHOS disorder in infants and children, is genetically heterogeneous. Mutations have been found in seven mitochondrial DNA (mtDNA) and eight nuclear DNA encoded subunits, respectively, but in most of the cases the genetic basis of the biochemical defect is unknown. We analyzed the entire mtDNA and 11 nuclear encoded complex I subunits in 23 isolated complex...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Leukoencephalopathy, Progressive Multifocal

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Source

Identifiers

PMID: 15576045
DOI: 10.1016/j.bbabio.2004.09.006

Genes

NDUFA8
NDUFS1
NDUFS2
NDUFS7

Provenance

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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