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Article

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.

Nucleic acids research - 11 Apr 1991

Lauber J, Marsac C, Kadenbach B, Seibel P

Abstract excerpt

We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable mtDNA deletions. Four point mutations were identified, located within highly conserved regions of mitochondrial tRNA genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One of these mutations (tRNA(Leu)(UAG)) was found in four patients with different forms of...

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Identifiers

PMID: 1709275
DOI: 10.1093/nar/19.7.1393
PMCID: PMC333891

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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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