Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 system, was found in members of a single large pedigree. A heteroplasmic new mutation was identified in the mtDNA gene specifying tRNALeu (UUR). This mutation segregated specifically with the disorder, and there were significant correlations between the proportion of the mtDNA that was of the mutant form and the activities (normalised for citrate synthase activity) of the two mtDNA-dependent respiratory enzymes (complex I, r=-0·71, pLeu (UUR) mutation is the genetic cause of this disorder, and that lesions of mtDNA should be considered in the differential diagnosis of the hereditary cardiomyopathies.

Original languageEnglish
Pages (from-to)143-147
Number of pages5
JournalLancet
Volume338
Issue number8760
DOIs
Publication statusPublished - Jul 20 1991

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of 'Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA<sup>Leu(UUR)</sup>'. Together they form a unique fingerprint.

Cite this