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

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

Neurology - 1 May 1994

Santorelli F M, Shanske S, Jain K D, Tick D, Schon E A, DiMauro S

Abstract excerpt

A 5-year-old child with clinical and radiologic evidence of Leigh syndrome (LS) showed a T-->C mutation at position nt 8993 in the mitochondrial DNA (instead of the more common T-->G substitution), resulting in an amino acid change from a highly conserved leucine to proline in subunit 6 of mitochondrial ATPase. The mutation was heteroplasmic and maternally inherited, and was present in high percentages in...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases
Share to Base Sequence
Share to Child, Preschool

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

Share to DNA, Mitochondrial

Share to Leigh Disease

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 8190310
DOI: 10.1212/wnl.44.5.972

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

A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.PMID 8190310Read ↗

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.Semantic proximity Read ↗

Two new mutations in the MTATP6 gene associated with Leigh syndrome.Semantic proximity Read ↗

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.Semantic proximity Read ↗

Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.Semantic proximity Read ↗

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.Semantic proximity Read ↗

Rostral brain lesions of Leigh syndrome associated with the mitochondrial DNA 8993T>G mutation.Semantic proximity Read ↗

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

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA.Semantic proximity Read ↗

Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.Semantic proximity Read ↗

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.Semantic proximity Read ↗

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.Semantic proximity Read ↗

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.Semantic proximity Read ↗

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