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Article

Phenotypic variations in 3 children with POLG1 mutations.

Journal of child neurology - 1 Apr 2009

Burusnukul Prinyarat, de los Reyes Emily C

Abstract excerpt

Autosomal inherited mitochondrial diseases have been of increasing interest among clinicians and mitochondrial research groups because these diseases are caused through a secondary effect on the mitochondrial DNA. It was thought that the genetic stability of mitochondrial DNA relies on the accuracy of DNA polymerase gamma. Mutations of DNA polymerase gamma 1 gene (MIM# 174763) have been shown to be a cause of...

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PMID: 19189930
DOI: 10.1177/0883073808324539

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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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