Two cases of congenital myasthenic syndrome with vocal cord paralysis

Neurology. 2015 Mar 24;84(12):1281-2. doi: 10.1212/WNL.0000000000001396. Epub 2015 Feb 18.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acetylcholinesterase / genetics*
  • Collagen / genetics*
  • Consanguinity
  • Female
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Myasthenic Syndromes, Congenital* / complications
  • Myasthenic Syndromes, Congenital* / genetics
  • Myasthenic Syndromes, Congenital* / physiopathology
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptors, Cholinergic / genetics*
  • Vocal Cord Paralysis* / etiology
  • Vocal Cord Paralysis* / genetics
  • Vocal Cord Paralysis* / physiopathology

Substances

  • Muscle Proteins
  • Receptors, Cholinergic
  • Collagen
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases
  • Acetylcholinesterase
  • COLQ protein, human