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

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.

Genes - 27 Aug 2020

Habbane Mouna, Llobet Laura, Bayona-Bafaluy M Pilar, Bárcena José E, Ceberio Leticia, Gómez-Díaz Covadonga, Gort Laura, Artuch Rafael, Montoya Julio, Ruiz-Pesini Eduardo

Abstract excerpt

BACKGROUND: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. METHODS: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed. RESULTS: mitochondrial DNA (mtDNA) m.1555A>G/MT-RNR1 and m.9541T>C/MT-CO3 mutations were found....

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 Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Leigh Disease

Share to Pedigree

Share to Phenotype

Share to RNA, Mitochondrial

Share to RNA, Ribosomal

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 32867169
DOI: 10.3390/genes11091007
PMCID: PMC7565518

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.PMID 32867169Read ↗

Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.Semantic proximity Read ↗

Mitochondrial tRNAGly A10055G mutation contributes to non-syndromic hearing loss: a study of three Han Chinese pedigrees.Semantic proximity Read ↗

Complete mtDNA sequencing reveals mutations m.9185T>C and m.13513G>A in three patients with Leigh syndrome.Semantic proximity Read ↗

[Mitochondrial ND5 as the causative gene of Leight syndrome].Semantic proximity Read ↗

Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy.Semantic proximity Read ↗

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.Semantic proximity Read ↗

The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.Semantic proximity Read ↗

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

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.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 ↗

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.Semantic proximity Read ↗

Mitochondrial DNA Mutations Linking Leigh Syndrome and Carotid Atherosclerosis: A Study of Shared Genetic PathwaysSemantic proximity Read ↗

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