Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy
Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, LacèVolume:
264
Journal:
Journal of Neurology
DOI:
10.1007/s00415-017-8569-x
Date:
August, 2017
File:
PDF, 4.78 MB
2017