Early and long-term effect of the treatment with pyridostigmine in patients with gmppb-related cms

Congenital myasthenic syndromes (CMS) consist of a heterogeneous group of disorders due to mutations in genes involved in the signal transmission of the neuromuscular junction [1,2]. Different genes encoding proteins involved in glycosylation have been identified causing CMSs [3,4]. GMPPB is one of them, since it encodes the enzyme GDP-mannose pyrophosphorylase B that catalyses the conversion of mannose-1-phosphate and GTP to GDP-mannose [4], essential for the glycosylation of key proteins involved in the neuromuscular junction development and function.

Source: Neuromuscular Disorders - July 23, 2020 Category: Neurology Authors: Edna Julieth Bobadilla-Quesada, Daniel Natera-de Benito, Laura Carrera-Garc ía, Carlos Ortez, Jessica Exposito-Escudero, Cecilia Jimenez-Mallebrera, Cristina Jou, Anna Codina, Joan Corbera, Obdulia Moya, Veronica Saez, Lidia Gonzalez-Quereda, Pia Gallano Source Type: research