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Article

Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

Neurology - 11 Sept 2007

Luoma P T, Eerola J, Ahola S, Hakonen A H, Hellström O, Kivistö K T, Tienari P J, Suomalainen A

Abstract excerpt

OBJECTIVE: Dysfunction of mitochondrial DNA polymerase gamma (POLG) has been recently recognized as an important cause of inherited neurodegenerative diseases. We have reported dominant and recessive inheritance of parkinsonism, mitochondrial myopathy, and premature amenorrhea in five ethnically distinct families with POLG1 mutations. This prompted us to carry out a detailed analysis of the coding region and...

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Source

Identifiers

PMID: 17846414
DOI: 10.1212/01.wnl.0000276955.23735.eb

Genes

POLG

Variants

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.

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