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

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.

BMC neurology - 18 Jul 2013

Dolhun Rachel, Presant Erin M, Hedera Peter

Abstract excerpt

BACKGROUND: Mutations in the POLG1 gene have variable phenotypic presentations and a high degree of clinical suspicion is necessary for their recognition. Parkinsonism and ataxia are the most common movement disorders associated with POLG1 mutations but no phenotype-genotype correlation has been established. CASE PRESENTATION: We identified a male patient with progressive external ophthalmoplegia who also...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to DNA-Directed DNA Polymerase
Share to DNA Polymerase gamma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Ophthalmoplegia, Chronic Progressive External

Share to Parkinsonian Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 23865558
DOI: 10.1186/1471-2377-13-92
PMCID: PMC3728152

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

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.PMID 23865558Read ↗

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.Semantic proximity Read ↗

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

Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.Semantic proximity Read ↗

Polymerase gamma 1 mutations: clinical correlations.Semantic proximity Read ↗

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

Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.Semantic proximity Read ↗

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

A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and ParkinsonismSemantic proximity Read ↗

POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature reviewSemantic proximity Read ↗

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.Semantic proximity Read ↗

Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions.Semantic proximity Read ↗

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

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