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

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

Journal of medical genetics - 1 Dec 2003

Lebon S, Chol M, Benit P, Mugnier C, Chretien D, Giurgea I, Kern I, Girardin E, Hertz-Pannier L, de Lonlay P, Rötig A, Rustin P, Munnich A

Abstract excerpt

Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis of all mitochondrially encoded complex I subunits (ND1 to ND6 and ND4L) in affected tissues. This approach yielded the unexpectedly high rate of 20% mutation identification in our series. Recurrent heteroplasmic mutations included two hitherto unreported (T10158C and T14487C) and three...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to DNA, Mitochondrial

Share to DNA Mutational Analysis

Share to Electron Transport Complex I

Share to Infant

Share to Leigh Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 14684687
DOI: 10.1136/jmg.40.12.896
PMCID: PMC1735336

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.PMID 14684687Read ↗

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.Semantic proximity Read ↗

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders.Semantic proximity Read ↗

The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.Semantic proximity Read ↗

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.Semantic proximity Read ↗

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.Semantic proximity Read ↗

Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.Semantic proximity Read ↗

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.Semantic proximity Read ↗

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C.Semantic proximity Read ↗

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

Clinical and molecular findings in children with complex I deficiency.Semantic proximity Read ↗

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Semantic proximity Read ↗

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