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

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

Archives of neurology - 1 Apr 2007

Hudson Gavin, Schaefer Andrew M, Taylor Robert W, Tiangyou Watcharee, Gibson Andrew, Venables Graham, Griffiths Philip, Burn David J, Turnbull Douglass M, Chinnery Patrick F

Abstract excerpt

OBJECTIVE: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. DESIGN: Microsatellite analysis and screening of the progressive external ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. RESULTS: We...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to DNA-Directed DNA Polymerase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

Share to Family Health

Share to Ophthalmoplegia, Chronic Progressive External

Share to Parkinsonian Disorders

Share to Sequence Homology, Amino Acid

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 17420318
DOI: 10.1001/archneur.64.4.553

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

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.PMID 17420318Read ↗

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

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.Semantic proximity Read ↗

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.Semantic proximity Read ↗

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

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.Semantic proximity Read ↗

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

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

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

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.Semantic proximity Read ↗

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

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

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.Semantic proximity Read ↗

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