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

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

Journal of child neurology - 1 Aug 2012

Henriques Margarida, Diogo Luísa, Garcia Paula, Pratas João, Simões Marta, Grazina Manuela

Abstract excerpt

MC, female, is the third child of a nonconsanguineous Portuguese couple, born after an uneventful pregnancy and delivery. A positive family history of ornithine transcarbamylase deficiency, associated with the IVS8+1 G>A mutation in the ornithine transcarbamylase gene, prompted prenatal diagnosis with identification of the same mutation in the proband. During an episode of Klebsiella pneumoniae sepsis at 1.5...

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 DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Leigh Disease

Share to Muscles

Share to Mutation

Share to Ornithine Carbamoyltransferase Deficiency Disease

Source

Identifiers

PMID: 22241703
DOI: 10.1177/0883073811431015

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

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.PMID 22241703Read ↗

Acute hyperammonaemic encephalopathy in a female newborn caused by a novel, de novo mutation in the ornithine transcarbamylase gene.Semantic proximity Read ↗

A Novel Two–Nucleotide Deletion in the Ornithine Transcarbamylase Gene Causing Fatal Hyperammonia in Early PregnancySemantic proximity Read ↗

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

Four new mutations in the ornithine transcarbamylase gene.Semantic proximity Read ↗

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

Respiratory chain complex III deficiency in patients with tRNA-leu mutation.Semantic proximity Read ↗

Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome.Semantic proximity Read ↗

Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.Semantic proximity Read ↗

[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].Semantic proximity Read ↗

Unusual findings in Leigh syndrome caused by T8993C mutation.Semantic proximity Read ↗

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

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