Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy

Intern Med. 1995 Jul;34(7):670-3. doi: 10.2169/internalmedicine.34.670.


In a 24-year-old woman with mitochondrial encephalomyopathy presenting hypertrophic cardiomyopathy, microscopical examination of myocardial biopsy specimen disclosed severe vacuolar degeneration of myocardium and aggregates of enlarged mitochondria with proliferated cristae. Limb muscle biopsy specimen showed "ragged-red fibers" light microscopically and enlarged abnormal mitochondria with markedly increased cristae ultrastructurally. Mitochondrial DNA analysis by polymerase chain reaction (PCR) revealed an A-to-G transition in the mitochondrial transfer RNA(Leu)(UUR) gene at nucleotide position 3,243 which is reported to be associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). However, the clinical features of this case, presenting mainly cardiac abnormalities, were not consistent with the typical MELAS.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Base Sequence
  • Cardiomyopathy, Hypertrophic / etiology*
  • DNA, Mitochondrial / analysis
  • DNA, Mitochondrial / genetics
  • Female
  • Humans
  • Mitochondrial Encephalomyopathies / complications
  • Mitochondrial Encephalomyopathies / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • RNA, Transfer, Amino Acyl / genetics*


  • DNA, Mitochondrial
  • RNA, Transfer, Amino Acyl