A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy

J Child Neurol. 2001 Jul;16(7):531-3. doi: 10.1177/088307380101600715.

Abstract

We describe a 5-year-old child with hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis. Mitochondrial DNA analysis showed a heteroplasmic A5814G point mutation in the tRNA(Cys) gene. The mutational load was extremely high (>95%) in muscle, fibroblasts, and blood. This report expands the clinical heterogeneity of the A5814G mutation, which should be considered in the differential diagnosis of hypertrophic cardiomyopathy in childhood.

Publication types

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

MeSH terms

  • Acidosis, Lactic / genetics*
  • Acidosis, Lactic / pathology
  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Cardiomyopathy, Hypertrophic, Familial / pathology
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Humans
  • Male
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Point Mutation*

Substances

  • DNA, Mitochondrial