Authors: Sieb, JP Kraner, S Schrank, B Reitter, B Goebel, THH Tzartos, SJ Steinlein, OK

Citation: Jp. Sieb et al., Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation, ANN NEUROL, 48(3), 2000, pp. 379-383