A3243G mitochondrial mutation associated with polymicrogyria

Dev Med Child Neurol. 2003 Oct;45(10):704-8. doi: 10.1017/s0012162203001300.


The mitochondrial transfer ribonucleic acid for leucine is encoded by nucleotides 3230-3304. A-to-G transition at nucleotide 3243 can cause maternally transmitted diabetes mellitus-deafness syndrome, and MELAS syndrome. MELAS syndrome is a rare disorder of mitochondrial energy production, and is an acronym for myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Cortical malformations are heterogeneous and result from abnormal cell proliferation/apoptosis, migration, and/or differentiation of neuroepithelial cells. They are an important and relatively common cause of intractable epilepsy and neurodevelopmental disorders. The association between these A3243G mutations and cortical malformation has never before been reported. Here a 14-year-old female with A3243G mutation and polymicrogyria is described and possible aetiologies of this association are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain* / abnormalities
  • Brain* / diagnostic imaging
  • Brain* / pathology
  • Calcinosis / pathology
  • Child
  • DNA, Mitochondrial / genetics*
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Gene Expression / genetics*
  • Humans
  • MELAS Syndrome / diagnosis*
  • MELAS Syndrome / genetics*
  • Phenotype
  • Point Mutation / genetics*
  • Tomography, X-Ray Computed


  • DNA, Mitochondrial