An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X) (2005)

Author(s): Soltanzadeh P, Muller JS, Ghorbani A, Abicht A, Lochmuller H, Soltanzadeh A

      • Date: 01-07-2005
      • Journal: Journal of Neurology, Neurosurgery and Psychiatry
      • Volume: 76
      • Issue: 7
      • Pages: 1039-1040
      • Publication type: Letter
      • Bibliographic status: Published

      Keywords: Adolescent Adult Asian Continental Ancestry Group/ genetics Consanguinity DNA Mutational Analysis Female Homozygote Humans Islam Male Myasthenia Gravis/diagnosis/ genetics Neurologic Examination Open Reading Frames Pedigree Protein Subunits/ genetics Receptors, Cholinergic/deficiency/ genetics


      Professor Hanns Lochmuller
      Professor of Experimental Myology