title: Two cases of congenital myasthenic syndrome with vocal cord paralysis.
authors.affiliation: From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada.
authors.forename: Rashid
authors.initials: R
authors.lastname: Al-Shahoumi
authors.affiliation: From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada.
authors.forename: Lauren I
authors.initials: LI
authors.lastname: Brady
authors.affiliation: From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Schwartzentruber
authors.affiliation: From McMaster University (R.A.-S., L.I.B., M.A.T.), Hamilton; and McGill University and Genome Quebec Innovation Centre (J.S.), Montréal, Canada. tarnopol@mcmaster.ca.
authors.forename: Mark A
authors.initials: MA
authors.lastname: Tarnopolsky
mesh_terms: D000110:Acetylcholinesterase / Q000235:genetics*; D003094:Collagen / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D020294:Myasthenic Syndromes, Congenital / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000235:genetics*; D014826:Vocal Cord Paralysis / Q000209:etiology / Q000235:genetics / Q000503:physiopathology
chemical_list: D009124:Muscle Proteins; D011950:Receptors, Cholinergic; D003094:Collagen; C095714:MUSK protein, human; D020794:Receptor Protein-Tyrosine Kinases; D000110:Acetylcholinesterase; C114027:COLQ protein, human