Congenital myasthenic syndrome due to DOK7 mutation in a cohort of patients with ‘unexplained’ limb-girdle muscular weakness

Autor: Lorenzoni, Paulo José, Kay, Cláudia Suemi Kamoi, Arndt, Raquel Cristina, Hrysay, Nyvia Milicio Coblinski, Ducci, Renata Dal-Pra, Fustes, Otto H. Jesus, Töpf, Ana, Lochmüller, Hanns, Werneck, Lineu Cesar, Scola, Rosana Herminia
Zdroj: In Journal of Clinical Neuroscience May 2020 75:195-198
Databáze: ScienceDirect