A novel mtDNA point mutation in maternally inherited cardiomyopathy

Carlo Casali, Filippo M. Santorelli, Giulia D'Amati, Paola Bernucci, Luciano Debiase, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


A novel mtDNA mutation at position nt. 4300 in the tRNA(Ile) gene is associated with hypertrophic cardiomyopathy inherited as a maternal trait. Interestingly, this mutation seems to cause a pure heart disease as opposed to most other mtDNA mutations, which are associated with multisystemic disorders. Hypertrophic cardiomyopathies are genetically heterogeneous, and mtDNA defects should be considered in the differential diagnosis, especially when there is evidence of maternal inheritance.

Original languageEnglish
Pages (from-to)588-593
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number2
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology
  • Cell Biology


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