Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

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 moto...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468088/
https://www.ncbi.nlm.nih.gov/pubmed/35948834
http://dx.doi.org/10.1007/s00401-022-02475-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9468088/
https://www.ncbi.nlm.nih.gov/pubmed/35948834
http://dx.doi.org/10.1007/s00401-022-02475-8

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