Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).

doi:10.1016/0140-6736(91)90136-d

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Article

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).

Lancet (London, England) - 20 Jul 1991

Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V, DiDonato S

Abstract excerpt

Different point mutations of the mitochondrial genome, which all affect the ability of mitochondria to translate their own genes and lead to partial defects of mtDNA-dependent respiratory complexes, are related to distinct clinical mitochondrial disorders. A new maternally inherited disorder, characterised by a combination of adult-onset myopathy and cardiomyopathy, with no clinical involvement of the nervous...

Topics

Adult
Cardiomyopathies
DNA Probes
DNA, Mitochondrial
Electromyography
Female
Humans
Middle Aged
Mitochondria, Heart
Mitochondria, Muscle
Mothers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscular Diseases

Mutation

Oxygen Consumption

Pedigree

RNA Probes

RNA, Transfer, Leu

Source

Open in PubMed

Identifiers

PMID: 1677065
DOI: 10.1016/0140-6736(91)90136-d

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1677065-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR).PMID 1677065Read ↗

A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.Semantic proximity Read ↗

Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.Semantic proximity Read ↗

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