Diagnosis of congenital myasthenic syndrome with mutation of the RAPSN gene after general anaesthesia

Eur J Anaesthesiol. 2011 Oct;28(10):748-9. doi: 10.1097/EJA.0b013e3283453f4b.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Anesthesia, General / adverse effects*
  • Child, Preschool
  • Heterozygote
  • Homozygote
  • Humans
  • Lung Diseases / etiology
  • Male
  • Muscle Proteins / genetics*
  • Mutation*
  • Myasthenic Syndromes, Congenital / diagnosis*
  • Myasthenic Syndromes, Congenital / genetics*
  • Postoperative Complications
  • Pyridostigmine Bromide / therapeutic use
  • Respiration, Artificial

Substances

  • Muscle Proteins
  • peripheral membrane protein 43K
  • Pyridostigmine Bromide