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Article

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.

Bioscience reports - 1 Apr 2008

Kornblum Cornelia, Zsurka Gábor, Wiesner Rudolf J, Schröder Rolf, Kunz Wolfram S

Abstract excerpt

CPEO (chronic progressive external ophthalmoplegia) is a common mitochondrial disease phenotype in adults which is due to mtDNA (mitochondrial DNA) point mutations in a subset of patients. Attributing pathogenicity to novel tRNA mtDNA mutations still poses a challenge, particularly when several mtDNA sequence variants are present. In the present study we report a CPEO patient for whom sequencing of the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18384291
DOI: 10.1042/BSR20080004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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