title: Novel epsilon subunit mutation of the muscle acetylcholine receptor causing a slow-channel congenital myasthenic syndrome.
authors.forename: O
authors.initials: O
authors.lastname: Outteryck
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: A
authors.initials: A
authors.lastname: Lacour
authors.forename: E
authors.initials: E
authors.lastname: Fournier
authors.forename: H
authors.initials: H
authors.lastname: Zéphir
authors.forename: K
authors.initials: K
authors.lastname: Gaudon
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: D
authors.initials: D
authors.lastname: Hantaï
authors.forename: P
authors.initials: P
authors.lastname: Vermersch
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009046:Motor Neurons / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000502:physiology*; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics* / Q000473:pathology*; D009431:Neural Conduction / Q000502:physiology; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000235:genetics*; D011978:Receptors, Nicotinic / Q000235:genetics*
chemical_list: C504423:CHRNE protein, human; D011950:Receptors, Cholinergic; D011978:Receptors, Nicotinic