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

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.

Pediatric neurology - 1 Jun 2009

Mkaouar-Rebai Emna, Chaari Wissem, Younes Samia, Bousoffara Raoudha, Sfar Mohamed Tahar, Fakhfakh Faiza

Abstract excerpt

Leigh syndrome is a genetically heterogeneous, neurodegenerative disorder that predominantly affects children and leads to death within months or years. Mutations causing this disease have been found in both mitochondrial and nuclear DNA. The present report describes a Tunisian family with a maternally inherited Leigh syndrome harboring the mitochondrial T8993G mutation in the ATPase 6 gene. Polymerase chain...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Infant
Share to Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Proton-Translocating ATPases

Share to Mutation

Share to Pedigree

Share to Pregnancy

Share to Tunisia

Source

Identifiers

PMID: 19433277
DOI: 10.1016/j.pediatrneurol.2009.01.004

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.PMID 19433277Read ↗

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

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

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

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

Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study.Semantic proximity Read ↗

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients.Semantic proximity Read ↗

Homoplasmy of the m. 8993 T>G variant in a patient without MRI findings of Leigh syndrome, ataxia or retinal abnormalities.Semantic proximity Read ↗

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

Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene.Semantic proximity Read ↗

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

Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.Semantic proximity Read ↗

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.Semantic proximity Read ↗

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