title: Clinical and neurophysiological response to pharmacological treatment of DOK7 congenital myasthenia in an older patient.
authors.affiliation: Neuromuscular Research Unit and Department of Neurology 2081 Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark. Electronic address: nanna.witting@regionh.dk.
authors.forename: Nanna
authors.initials: N
authors.lastname: Witting
authors.affiliation: Department of Neurophysiology 3061 Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
authors.forename: Clarissa
authors.initials: C
authors.lastname: Crone
authors.affiliation: Department of Clinical Genetics 4062 Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
authors.forename: Morten
authors.initials: M
authors.lastname: Duno
authors.affiliation: Neuromuscular Research Unit and Department of Neurology 2081 Rigshospitalet, University of Copenhagen, 2100 Copenhagen, Denmark.
authors.forename: John
authors.initials: J
authors.lastname: Vissing
mesh_terms: D015761:4-Aminopyridine / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000368:Aged; D000077770:Amifampridine; D005260:Female; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000473:pathology
chemical_list: C511692:DOK7 protein, human; D009124:Muscle Proteins; D015761:4-Aminopyridine; D000077770:Amifampridine
keywords: 3 ;4-Diaminopyridine; Congenital myasthenic syndrome; Electrophysiological findings; Ephedrine; Salbutamol