Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

Muscle Nerve. 1997 Feb;20(2):221-5. doi: 10.1002/(sici)1097-4598(199702)20:2<221::aid-mus13>3.0.co;2-5.

Abstract

The A to G transition at nt.3243 of the tRNALeu(UUR) gene of mtDNA, commonly associated with MELAS, was detected in several members of a family affected by a maternally inherited form of hypertrophic cardiomyopathy. These findings suggest adding cardiomyopathy in the list of phenotypes associated with the 3243 mutation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • Cardiomyopathies / genetics*
  • DNA, Mitochondrial / genetics*
  • Electroencephalography
  • Electromyography
  • Electron Transport Complex IV / metabolism
  • Female
  • Humans
  • MELAS Syndrome / genetics*
  • Male
  • Muscle Fibers, Skeletal / enzymology
  • Muscle Fibers, Skeletal / pathology
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / pathology
  • Myocardium / enzymology
  • Myocardium / pathology
  • Pedigree
  • Phenotype
  • Point Mutation*
  • Polymorphism, Restriction Fragment Length
  • Succinate Dehydrogenase / metabolism

Substances

  • DNA, Mitochondrial
  • Succinate Dehydrogenase
  • Electron Transport Complex IV

Grant support