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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...

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Identifiers

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

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

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Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.Semantic proximity Read ↗

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