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Article

Long survival in Leigh syndrome: new cases and review of literature.

Neuropediatrics - 1 Dec 2014

Aulbert Wiebke, Weigt-Usinger Katharina, Thiels Charlotte, Köhler Cornelia, Vorgerd Matthias, Schreiner Anja, Hoffjan Sabine, Rothoeft Tobias, Wortmann Saskia Brigitte, Heyer Christoph Malte, Podskarbi Teodor, Lücke Thomas

Abstract excerpt

Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The...

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Source

Identifiers

PMID: 25111564
DOI: 10.1055/s-0034-1383823

Genes

SURF1

Variants

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.

Related research

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Long survival in Leigh syndrome: new cases and review of literature.PMID 25111564Read ↗

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

SURF1 missense mutations promote a mild Leigh phenotype.Semantic proximity Read ↗

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.Semantic proximity Read ↗

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

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

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

Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study.Semantic proximity Read ↗

The magnetic resonance imaging of Leigh syndrome in a child.Semantic proximity Read ↗

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.Semantic proximity Read ↗

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.Semantic proximity Read ↗

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

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.Semantic proximity Read ↗

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