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 polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Journal of medical genetics - 1 Oct 2011

Tang Sha, Wang Jing, Lee Ni-Chung, Milone Margherita, Halberg Michelle C, Schmitt Eric S, Craigen William J, Zhang Wei, Wong Lee-Jun C

Abstract excerpt

Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial diseases in children and adults. This study sequenced the exons and flanking intronic regions of the POLG gene from 2697 unrelated patients with clinical presentations suggestive of POLG deficiency. Informative mutations have been identified in 136 unrelated individuals (5%), including 92 patients with two...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Directed DNA Polymerase

Share to DNA Polymerase gamma

Share to Mitochondrial Diseases

Share to Molecular Diagnostic Techniques

Share to Oligonucleotide Array Sequence Analysis

Share to Reproducibility of Results

Source

Identifiers

PMID: 21880868
DOI: 10.1136/jmedgenet-2011-100222

Genes

POLG

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

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.PMID 21880868Read ↗

The unfolding clinical spectrum of POLG mutations.Semantic proximity Read ↗

Consequences of mutations in human DNA polymerase gamma.Semantic proximity Read ↗

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.Semantic proximity Read ↗

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Semantic proximity Read ↗

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

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.Semantic proximity Read ↗

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

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

Mitochondrial DNA polymerase-gamma and human disease.Semantic proximity Read ↗

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

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.Semantic proximity Read ↗

Polymerase gamma disease through the ages.Semantic proximity Read ↗

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