A8344G tRNALys mutation associated with recurrent brain stem stroke-like episodes

J Neurol. 2009 Feb;256(2):271-3. doi: 10.1007/s00415-009-0921-3. Epub 2009 Feb 27.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Ataxia / genetics
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • Brain Stem Infarctions / genetics*
  • Brain Stem Infarctions / pathology
  • Brain Stem Infarctions / physiopathology
  • DNA Mutational Analysis
  • Deglutition Disorders / genetics
  • Disease Progression
  • Dysarthria / genetics
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Inheritance Patterns / genetics
  • MERRF Syndrome / complications*
  • MERRF Syndrome / genetics*
  • MERRF Syndrome / physiopathology
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • RNA, Transfer, Lys / genetics*
  • Recurrence
  • Respiratory Distress Syndrome / genetics

Substances

  • Genetic Markers
  • RNA, Transfer, Lys