Familial Dok7 congenital myasthenic syndrome responsive to salbutamol

Neurol India. 2014 May-Jun;62(3):313. doi: 10.4103/0028-3886.136999.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adrenergic beta-2 Receptor Agonists / administration & dosage
  • Adrenergic beta-2 Receptor Agonists / pharmacology*
  • Adult
  • Albuterol / administration & dosage
  • Albuterol / pharmacology*
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Myasthenic Syndromes, Congenital* / diagnosis
  • Myasthenic Syndromes, Congenital* / drug therapy
  • Myasthenic Syndromes, Congenital* / physiopathology
  • Treatment Outcome

Substances

  • Adrenergic beta-2 Receptor Agonists
  • DOK7 protein, human
  • Muscle Proteins
  • Albuterol