A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy

Biochem Biophys Res Commun. 1995 Nov 22;216(3):835-40. doi: 10.1006/bbrc.1995.2697.


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.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Brain Diseases / genetics*
  • Cardiomyopathy, Hypertrophic / genetics*
  • DNA, Mitochondrial / chemistry*
  • Female
  • Humans
  • Infant
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single-Stranded Conformational
  • RNA, Transfer, Ile / genetics
  • Sequence Analysis, DNA


  • DNA, Mitochondrial
  • RNA, Transfer, Ile

Associated data

  • GENBANK/S80170