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Article

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

Neuromuscular disorders : NMD - 1 Jun 2008

Invernizzi Federica, Varanese Sara, Thomas Astrid, Carrara Franco, Onofrj Marco, Zeviani Massimo

Abstract excerpt

Different mutations, or combinations of mutations, in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase, are associated with a spectrum of clinical presentations including autosomal dominant or recessive progressive external ophthalmoplegia (PEO), juvenile...

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Share to DNA-Directed DNA Polymerase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ophthalmoplegia, Chronic Progressive External

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Source

Identifiers

PMID: 18502641
DOI: 10.1016/j.nmd.2008.04.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18502641-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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