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

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Journal of clinical pathology - 1 Apr 2008

Pronicki M, Matyja E, Piekutowska-Abramczuk D, Szymanska-Debinska T, Karkucinska-Wieckowska A, Karczmarewicz E, Grajkowska W, Kmiec T, Popowska E, Sykut-Cegielska J

Abstract excerpt

AIMS: Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscle morphology...

Read the complete abstract on PubMed

Topics

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

Share to Biopsy
Share to Cytochrome-c Oxidase Deficiency

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Leigh Disease

Share to Lipid Metabolism

Share to Membrane Proteins

Share to Microscopy, Electron

Share to Mitochondrial Proteins

Share to Muscle, Skeletal

Source

Open in PubMed Open full text

Identifiers

PMID: 17908801
DOI: 10.1136/jcp.2007.051060
PMCID: PMC2571978

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.PMID 17908801Read ↗

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

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

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

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

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

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

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations.Semantic proximity Read ↗

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

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 ↗

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