Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG

Por Schorling, David C., Rost, Simone, Lefeber, Dirk J., Brady, Lauren, Müller, Clemens R., Korinthenberg, Rudolf, Tarnopolsky, Mark, Bönnemann, Carsten G., Rodenburg, Richard J., Bugiani, Marianna, Beytia, Maria, Krüger, Marcus, van der Knaap, Marjo, Kirschner, Jan
Publicado no Neurology (2017)