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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...

Topics

Adult
Base Sequence
Female
Humans
Male
Middle Aged
Mitochondria
Molecular Sequence Data
Mutation
Neuromuscular Diseases
Nucleic Acid Conformation
Ophthalmoplegia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

RNA

RNA, Mitochondrial

RNA, Transfer

Sequence Homology, Nucleic Acid

Source

Open in PubMed Open full text

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1709275-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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