1. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1. (August 2020) Authors: Szelinger, Szabolcs; Krate, Jonida; Ramsey, Keri; Strom, Samuel P.; Shieh, Perry B.; Lee, Hane; Belnap, Newell; Balak, Chris; Siniard, Ashley L.; Russell, Megan; Richholt, Ryan; Both, Matt De; Claasen, Ana M.; Schrauwen, Isabelle; Nelson, Stanley F.; Huentelman, Matthew J.; Craig, David W.; Yang,... Journal: Neurology Issue: Volume 6:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗