A3243G mitochondrial mutation associated with polymicrogyria

W T Keng, D T Pilz, B Minns, D R FitzPatrick

Research output: Contribution to journalArticlepeer-review


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.
Original languageEnglish
Pages (from-to)704-8
Number of pages5
JournalDevelopmental medicine and child neurology
Issue number10
Publication statusPublished - Oct 2003


  • Adolescent
  • Brain
  • Calcinosis
  • Child
  • DNA, Mitochondrial
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Gene Expression
  • Humans
  • MELAS Syndrome
  • Phenotype
  • Point Mutation
  • Tomography, X-Ray Computed


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