A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation

J Neurol Neurosurg Psychiatry. 2010 Apr;81(4):471-2. doi: 10.1136/jnnp.2009.173831.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / etiology
  • DNA, Mitochondrial / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • MELAS Syndrome / complications
  • MELAS Syndrome / genetics*
  • MERRF Syndrome / complications
  • MERRF Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Myoclonic Cerebellar Dyssynergia / complications
  • Myoclonic Cerebellar Dyssynergia / pathology
  • Phenotype*
  • Point Mutation / genetics*
  • Young Adult

Substances

  • DNA, Mitochondrial