C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome

Acta Neurol Belg. 2017 Dec;117(4):947-949. doi: 10.1007/s13760-017-0793-8. Epub 2017 May 20.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • DNA Helicases / genetics*
  • Demyelinating Diseases / genetics*
  • Demyelinating Diseases / physiopathology
  • Electroencephalography
  • Evoked Potentials, Somatosensory
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Mitochondrial Proteins / genetics*
  • Mutation / genetics*
  • Ophthalmoplegia, Chronic Progressive External / diagnostic imaging
  • Ophthalmoplegia, Chronic Progressive External / genetics*
  • Ophthalmoplegia, Chronic Progressive External / physiopathology

Substances

  • Mitochondrial Proteins
  • DNA Helicases
  • TWNK protein, human