title: Familial Dok7 congenital myasthenic syndrome responsive to salbutamol.
authors.affiliation: Department of Neurology, Lourdes Hospital, Kochi, Kerala, India.
authors.forename: Boby Varkey
authors.initials: BV
authors.lastname: Maramattom
authors.forename: Rahul
authors.initials: R
authors.lastname: Patil
authors.forename: Joe
authors.initials: J
authors.lastname: Thomas
mesh_terms: D058666:Adrenergic beta-2 Receptor Agonists / Q000008:administration & dosage / Q000494:pharmacology*; D000328:Adult; D000420:Albuterol / Q000008:administration & dosage / Q000494:pharmacology*; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis / Q000188:drug therapy / Q000503:physiopathology; D016896:Treatment Outcome
chemical_list: D058666:Adrenergic beta-2 Receptor Agonists; C511692:DOK7 protein, human; D009124:Muscle Proteins; D000420:Albuterol