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Article

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.

American journal of human genetics - 1 Aug 2009

Tyynismaa Henna, Ylikallio Emil, Patel Mehul, Molnar Maria J, Haller Ronald G, Suomalainen Anu

Abstract excerpt

Autosomal-dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder that is characterized by accumulation of multiple mitochondrial DNA (mtDNA) deletions in postmitotic tissues. The disorder is heterogeneous, with five known nuclear disease genes that encode the proteins A...

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Source

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Identifiers

PMID: 19664747
DOI: 10.1016/j.ajhg.2009.07.009
PMCID: PMC2725268

Genes

OPA1
POLG
POLG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19664747-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.PMID 19664747Read ↗

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