Unusual Clinical Presentations Associated with the A3243G Mutation

  • Dr Stefan Blum, Royal Brisbane Hospital, Department of Neurology, Australia
  • Dr Thomas Robertson, Royal Brisbane Hospital, Department of Pathology, Australia
  • Mrs Sandra Klingberg, Royal Brisbane Hospital, Department of Biochemistry, Australia
  • Robert Henderson, Royal Brisbane Hospital, Department of Neurology, Australia
  • Dr Pamela McCombe, Royal Brisbane Hospital, Department of Neurology, Australia

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is a clinical syndrome associated with mitochondrial abnormalities. In about 80% of patients, the syndrome is associated with the A3243G mutation. However, it has been realized that the A3243G mutation is not uncommon in the general population and is found in many patients with clinical presentations other than MELAS.
We present four patients who presented with rhabdomyolysis, muscles fatigue, external ophthalmoplegia and myoclonic jerking respectively. These patients were all found to have the A3243G mutation on muscle biopsy. These patients illustrate that the variety of presentations that are associated with the A3243G mutation, other than the typical MELAS syndrome.