article_metadata: Constanze Gallenmüller Wolfgang Müller-Felber Marina Dusl Rolf Stucka Velina Guergueltcheva Astrid Blaschek Maja von der Hagen Angela Huebner Juliane S Müller Hanns Lochmüller Angela Abicht
article_metadata: 10.1016/j.nmd.2013.08.002
article_metadata: Neuromuscul Disord
article_metadata: 2014 Jan;24(1):31-5.
article_metadata: ache achr ck cmap cms congenital myasthenic syndromes musk-related cms neuromuscular transmission salbutamol treatment acetylcholine esterase acetylcholine receptor compound muscle action potential congenital myasthenic syndrome creatine kinase
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24183479/
article_metadata: Albuterol / therapeutic use Mutation, Missense Myasthenic Syndromes, Congenital / drug therapy Myasthenic Syndromes, Congenital / genetics Receptor Protein-Tyrosine Kinases / genetics Receptors, Cholinergic / genetics
article_metadata: Albuterol / therapeutic use Mutation, Missense Myasthenic Syndromes, Congenital / drug therapy Myasthenic Syndromes, Congenital / genetics Receptor Protein-Tyrosine Kinases / genetics Receptors, Cholinergic / genetics Case Reports Research Support, Non-U.S. Gov't Alleles Humans Male Myasthenic Syndromes, Congenital / diagnosis Sequence Deletion Siblings Receptors, Cholinergic MUSK protein, human Receptor Protein-Tyrosine Kinases Albuterol
article_metadata: PMC4018985
article_metadata: 24183479
article_metadata: Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
article_metadata: 2014