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Article

The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.

Journal of inherited metabolic disease - 1 Feb 2006

Coenen M J H, Smeitink J A M, Farhoud M H, Nijtmans L G J, Rodenburg R, Janssen A, van Kaauwen E P M, Trijbels F J M, van den Heuvel L P

Abstract excerpt

Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.

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Share to Cytochrome-c Oxidase Deficiency
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electrophoresis, Gel, Two-Dimensional

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Source

Identifiers

PMID: 16601896
DOI: 10.1007/s10545-006-0185-3

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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The first patient diagnosed with cytochrome c oxidase deficient Leigh syndrome: progress report.PMID 16601896Read ↗

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SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.Semantic proximity Read ↗

Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.Semantic proximity Read ↗

New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.Semantic proximity Read ↗

Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.Semantic proximity Read ↗

SURF1 deficiency: a multi-centre natural history studySemantic proximity Read ↗

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.Semantic proximity Read ↗

Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.Semantic proximity Read ↗

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SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.Semantic proximity Read ↗

SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.Semantic proximity Read ↗

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