A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy

Filippo M. Santorelli, Suk Chun Mak, Miriam Vàzquez-Acevedo, Adalberto González-Astiazarán, Cecilia Ridaura-Sanz, Diego González-Halphen, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


A novel mitochondrial DNA(mtDNA) mutation at position nt 4320 in the tRNA(Ile) gene was associated with severe encephalopathy in a 7-month-old infant, who died of intractable hypertrophic cardiomyopathy. The mutation was present in heteroplasmic fashion (88%) in muscle and fulfills accepted criteria for pathogenicity. This is the fourth pathogenic mutation identified in this gene, which appears to be a 'hotspot' for deleterious mutations affecting the heart. This report adds to the evidence of genetic heterogeneity in hypertrophic cardiomyopathies.

Original languageEnglish
Pages (from-to)835-840
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number3
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology
  • Cell Biology


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