Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes

Neurology. 2009 Dec 1;73(22):1926-8. doi: 10.1212/WNL.0b013e3181c3fce9.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Arginine / genetics
  • Cholinesterase Inhibitors / therapeutic use
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Humans
  • Longitudinal Studies
  • Male
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / drug therapy
  • Myasthenic Syndromes, Congenital / genetics*
  • Myasthenic Syndromes, Congenital / physiopathology*
  • Phenotype*
  • Proline / genetics
  • Pyridostigmine Bromide / therapeutic use
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptors, Cholinergic / genetics*
  • Young Adult

Substances

  • Cholinesterase Inhibitors
  • Receptors, Cholinergic
  • Arginine
  • Proline
  • MUSK protein, human
  • Receptor Protein-Tyrosine Kinases
  • Pyridostigmine Bromide