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Article

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Archives of neurology - 1 Sept 2003

Filosto Massimiliano, Mancuso Michelangelo, Nishigaki Yutaka, Pancrudo Jacklyn, Harati Yadollah, Gooch Clifton, Mankodi Ami, Bayne Lydia, Bonilla Eduardo, Shanske Sara, Hirano Michio, DiMauro Salvatore

Abstract excerpt

BACKGROUND: The mendelian forms of progressive external ophthalmoplegia (PEO) associated with multiple mitochondrial DNA deletions are clinically heterogeneous disorders transmitted as dominant or recessive traits. Autosomal dominant PEO is caused by mutations in at least 3 genes: adenine nucleot...

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Source

Identifiers

PMID: 12975295
DOI: 10.1001/archneur.60.9.1279

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12975295-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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