title: COLQ-Related Congenital Myasthenic Syndrome and Response to Salbutamol Therapy.
authors.affiliation: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Hansashree
authors.initials: H
authors.lastname: Padmanabha
authors.forename: Arushi G
authors.initials: AG
authors.lastname: Saini
authors.forename: Naveen
authors.initials: N
authors.lastname: Sankhyan
authors.forename: Pratibha
authors.initials: P
authors.lastname: Singhi
mesh_terms: D000110:Acetylcholinesterase / Q000235:genetics*; D058666:Adrenergic beta-2 Receptor Agonists / Q000627:therapeutic use*; D000420:Albuterol / Q000627:therapeutic use*; D003094:Collagen / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000188:drug therapy* / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D058666:Adrenergic beta-2 Receptor Agonists; D009124:Muscle Proteins; D003094:Collagen; D000110:Acetylcholinesterase; C114027:COLQ protein, human; D000420:Albuterol