Pregnancy-associated respiratory failure in muscle specific kinase congenital myasthenic syndrome

Muscle Nerve. 2019 Apr;59(4):E24-E26. doi: 10.1002/mus.26410. Epub 2019 Jan 22.
No abstract available

Keywords: MuSK; congenital myasthenic syndrome; mortality; pregnancy; respiratory; tongue wasting.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity
  • Deglutition Disorders / etiology
  • Fatal Outcome
  • Female
  • Humans
  • Myasthenic Syndromes, Congenital / genetics
  • Myasthenic Syndromes, Congenital / pathology*
  • Pregnancy
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptors, Cholinergic / genetics
  • Respiration, Artificial
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / pathology*
  • Tongue / pathology
  • Young Adult

Substances

  • Receptors, Cholinergic
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases