Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient

Clin Neurol Neurosurg. 2015 Mar:130:168-70. doi: 10.1016/j.clineuro.2015.01.010. Epub 2015 Jan 15.
No abstract available

Keywords: 3 ;4-Diaminopyridine; Congenital myasthenic syndrome; Electrophysiological findings; Ephedrine; Salbutamol.

Publication types

  • Case Reports

MeSH terms

  • 4-Aminopyridine / analogs & derivatives*
  • 4-Aminopyridine / therapeutic use
  • Aged
  • Amifampridine
  • Female
  • Humans
  • Muscle Proteins / genetics*
  • Mutation / genetics
  • Myasthenic Syndromes, Congenital / drug therapy*
  • Myasthenic Syndromes, Congenital / pathology

Substances

  • DOK7 protein, human
  • Muscle Proteins
  • 4-Aminopyridine
  • Amifampridine