An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)

J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1039-40. doi: 10.1136/jnnp.2004.059436.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Asian People / genetics*
  • Consanguinity
  • DNA Mutational Analysis*
  • Female
  • Homozygote
  • Humans
  • Islam
  • Male
  • Myasthenia Gravis / diagnosis
  • Myasthenia Gravis / genetics*
  • Neurologic Examination
  • Open Reading Frames
  • Pedigree
  • Protein Subunits / genetics*
  • Receptors, Cholinergic / deficiency
  • Receptors, Cholinergic / genetics*

Substances

  • Protein Subunits
  • Receptors, Cholinergic