title: An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X).
authors.forename: P
authors.initials: P
authors.lastname: Soltanzadeh
authors.forename: J S
authors.initials: JS
authors.lastname: Müller
authors.forename: A
authors.initials: A
authors.lastname: Ghorbani
authors.forename: A
authors.initials: A
authors.lastname: Abicht
authors.forename: H
authors.initials: H
authors.lastname: Lochmüller
authors.forename: A
authors.initials: A
authors.lastname: Soltanzadeh
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D007514:Islam; D008297:Male; D009157:Myasthenia Gravis / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D016366:Open Reading Frames; D010375:Pedigree; D021122:Protein Subunits / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000172:deficiency / Q000235:genetics*
chemical_list: D021122:Protein Subunits; D011950:Receptors, Cholinergic