Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy

Neurology. 2011 Sep 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Mutational Analysis
  • Electric Stimulation / methods
  • Electromyography
  • Evoked Potentials, Motor / genetics
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics*
  • Nervous System Diseases / etiology*
  • Nervous System Diseases / genetics
  • Nervous System Diseases / pathology
  • Neural Conduction / physiology
  • Optic Atrophy, Autosomal Dominant / complications*
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Optic Atrophy, Autosomal Dominant / pathology
  • Pyramidal Tracts / physiopathology

Substances

  • GTP Phosphohydrolases
  • OPA1 protein, human