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

Inherited mitochondrial diseases of DNA replication.

Annual review of medicine - 1 Jan 2008

Copeland William C

Abstract excerpt

Mitochondrial genetic diseases can result from defects in mitochondrial DNA (mtDNA) in the form of deletions, point mutations, or depletion, which ultimately cause loss of oxidative phosphorylation. These mutations may be spontaneous, maternally inherited, or a result of inherited nuclear defects in genes that maintain mtDNA. This review focuses on our current understanding of nuclear gene mutations that produce...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to DNA Replication
Share to POLG gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 17892433
DOI: 10.1146/annurev.med.59.053006.104646
PMCID: PMC2271032

Genes

DGUOK
MPV17
POLG
POLG2
SUCLA2

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

Inherited mitochondrial diseases of DNA replication.PMID 17892433Read ↗

Defects in mitochondrial DNA replication and human disease.Semantic proximity Read ↗

The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.Semantic proximity Read ↗

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.Semantic proximity Read ↗

Syndromes associated with mitochondrial DNA depletion.Semantic proximity Read ↗

Human mitochondrial DNA replication machinery and disease.Semantic proximity Read ↗

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.Semantic proximity Read ↗

Clinical and molecular features of mitochondrial DNA depletion syndromes.Semantic proximity Read ↗

Disorders of nuclear-mitochondrial intergenomic signaling.Semantic proximity Read ↗

MtDNA-maintenance defects: syndromes and genes.Semantic proximity Read ↗

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.Semantic proximity Read ↗

Inherited mitochondrial DNA depletion.Semantic proximity Read ↗

Neurological disorders due to mutations of the mitochondrial genome.Semantic proximity Read ↗

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