Positive response to inhaled salbutamol in congenital myasthenic syndrome due to CHRNE mutation

Video S1 Segment A of the video shows the patient performing repetitive sit-ups. Fatigable weakness with near complete inability of the patient to perform repetitive exercise is observed. In segment B, dramatic improvement in repetitive testing is observed, 30 min following inhaled salbutamol therapy. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.