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Article

Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.

American journal of medical genetics. Part A - 15 Jul 2004

Salviati Leonardo, Freehauf Cindy, Sacconi Sabrina, DiMauro Salvatore, Thoma Janet, Tsai Anne Chun-Hui

Abstract excerpt

Mutations in SURF1, a gene involved in cytochrome-c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with failure to thrive, psychomotor regression, ataxia, signs of brainstem dysfunction, and peripheral neuropathy. Progressi...

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Source

Identifiers

PMID: 15214016
DOI: 10.1002/ajmg.a.30073

Genes

SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15214016-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome.PMID 15214016Read ↗

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SURF1-associated Leigh syndrome: a case series and novel mutations.Semantic proximity Read ↗

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.Semantic proximity Read ↗

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