Article
Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons.
Acta neuropathologica - 1 Oct 2022
Jacquier Arnaud, Risson Valérie, Simonet Thomas, Roussange Florine, Lacoste Nicolas, Ribault Shams, Carras Julien, Theuriet Julian, Girard Emmanuelle, Grosjean Isabelle, Le Goff Laure, Kröger Stephan, Meltoranta Julia, Bauché Stéphanie, Sternberg Damien, Fournier Emmanuel, Kostera-Pruszczyk Anna, O'Connor Emily, Eymard Bruno, Lochmüller Hanns, Martinat Cécile, Schaeffer Laurent
Abstract excerpt
Congenital myasthenic syndromes (CMS) are predominantly characterized by muscle weakness and fatigability and can be caused by a variety of mutations in genes required for neuromuscular junction formation and maintenance. Among them, AGRN encodes agrin, an essential synaptic protein secreted by motoneurons. We have identified severe CMS patients with uncharacterized p.R1671Q, p.R1698P and p.L1664P mutations in...
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