Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.

Endocrine regulations - 1 Apr 2018

Danis Daniel, Brennerova Katarina, Skopkova Martina, Kurdiova Timea, Ukropec Jozef, Stanik Juraj, Kolnikova Miriam, Gasperikova Daniela

Abstract excerpt

OBJECTIVES: Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings. At molecular level, deficiency of respiratory complexes and/or pyruvate dehydrogenase complex is usually observed. Nuclear gene SURF1 encodes an assembly factor...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Leigh Disease

Share to Membrane Proteins

Share to Mitochondrial Proteins

Share to Pedigree

Share to Slovakia

Source

Identifiers

PMID: 29715184
DOI: 10.2478/enr-2018-0013

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.PMID 29715184Read ↗

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

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

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

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.Semantic proximity Read ↗

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.Semantic proximity Read ↗

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

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.Semantic proximity Read ↗

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

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.Semantic proximity Read ↗

An Atypical <em>SURF1</em> -Associated Leigh Syndrome Phenotype Presenting with Ocular Dyspraxia and Nocturnal DisturbancesSemantic proximity Read ↗

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.