Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

Archive ouverte | Ben Ammar, A. | CCSD

International audience

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

Archive ouverte | Ishigaki, K. | CCSD

Organisation structurale, moléculaire, formation et maturation de la jonction neuromusculaire

Archive ouverte | Rigoard, P. | CCSD

International audience