Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion

Clin Neurol Neurosurg. 2013 Aug;115(8):1490-2. doi: 10.1016/j.clineuro.2012.11.011. Epub 2012 Dec 23.
No abstract available

Keywords: Chronic progressive external ophthalmoplegia; Large-scale deletion; Mitochondrial DNA; Motor neuron disease.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Atrophy
  • Blotting, Southern
  • DNA, Mitochondrial / genetics*
  • Fasciculation / etiology
  • Fasciculation / physiopathology
  • Gene Deletion*
  • Humans
  • Male
  • Motor Neuron Disease / complications*
  • Muscle Fibers, Skeletal / pathology
  • Muscle Weakness / etiology
  • Muscle, Skeletal / chemistry
  • Ophthalmoplegia, Chronic Progressive External / etiology*
  • Polymerase Chain Reaction

Substances

  • DNA, Mitochondrial