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

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child.

Folia neuropathologica - 1 Jan 2007

Pronicki Maciej, Sykut-Cegielska Jolanta, Matyja Ewa, Musialowicz Jacek, Karczmarewicz Elzbieta, Tonska Katarzyna, Piechota Janusz, Piekutowska-Abramczuk Dorota, Kowalski Pawel, Bartnik Ewa

Abstract excerpt

UNLABELLED: Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, having relatively homogeneous clinical symptomatology and pattern of neuropathological changes, shows remarkable heterogeneity in biochemical and molecular background. G8363A mitochondrial DNA mutation typical for MERRF...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Leigh Disease

Share to Muscle, Skeletal

Share to Mutation

Source

Identifiers

PMID: 18176892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18176892-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child.PMID 18176892Read ↗

Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review.Semantic proximity Read ↗

Neurological presentations of mitochondrial diseases.Semantic proximity Read ↗

[Mitochondrial diseases in children including Leigh syndrome--biochemical and molecular background].Semantic proximity Read ↗

Leigh syndrome: an adult presentation of a paediatric disease.Semantic proximity Read ↗

Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.Semantic proximity Read ↗

Molecular basis of Leigh syndrome: a current look.Semantic proximity Read ↗

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.Semantic proximity Read ↗

A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations.Semantic proximity Read ↗

Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.Semantic proximity Read ↗

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.Semantic proximity Read ↗

A novel presentation of inappropriate antidiuretic hormone secretion in Leigh syndrome with the myoclonic epilepsy and ragged red fibers, mitochondrial DNA 8344A>G mutation.Semantic proximity Read ↗

[Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria].Semantic proximity Read ↗

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