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

A case of POLG-related mitochondrial DNA maintenance defect.

Acta neurologica Belgica - 1 Feb 2026

Wang Junyi, Tan Changhong, Deng Fen, Liu Xi, Chen Lifen

Abstract excerpt

Mitochondrial DNA (mtDNA) maintenance defects (specifically mtDNA depletion syndromes, MDS) are autosomal recessive disorders caused by a severe reduction in mtDNA content, leading to impaired oxidative phosphorylation and energy deficiency in affected tissues. The clinical heterogeneity of mtDNA maintenance defects correlates with specific gene mutations, with POLG being one of the most frequently implicated...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Directed DNA Polymerase
Share to DNA, Mitochondrial
Share to DNA Polymerase gamma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to POLG gene

Share to Mitochondrial Diseases

Share to Mutation

Share to Ophthalmoplegia, Chronic Progressive External

Source

Identifiers

PMID: 41171527
DOI: 10.1007/s13760-025-02922-9

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A case of POLG-related mitochondrial DNA maintenance defect.PMID 41171527Read ↗

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

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read ↗

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

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenSemantic proximity Read ↗

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.Semantic proximity Read ↗

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Semantic proximity Read ↗

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.Semantic proximity Read ↗

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.Semantic proximity Read ↗

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

Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.Semantic proximity Read ↗

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

POLG mutations in Australian patients with mitochondrial disease.Semantic proximity Read ↗

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