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Article

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Nature genetics - 1 Jul 2001

Van Goethem G, Dermaut B, Löfgren A, Martin J J, Van Broeckhoven C

Abstract excerpt

Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive...

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Source

Identifiers

PMID: 11431686
DOI: 10.1038/90034

Genes

POLG

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.

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.PMID 11431686Read ↗

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Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia.Semantic proximity Read ↗

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