Dystrophic Myopathy of the Diaphragm with Recurrent Severe Respiratory Failure is Congenital Myasthenic Syndrome 11

por Kramer, J.J., Boon, H.T.M., Leijten, Q.H., Ter Laak, Henk, Eshuis, L., Kusters, B., van Doorn, J.L.M., Kamsteeg, E.J., Eymard, B., Doorduin, J., Voermans, N.C.
Publicado 2023

The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

por Knuiman, G. J., Küsters, B., Eshuis, L., Snoeck, M., Lammens, M., Heytens, L., De Ridder, W., Baets, J., Scalco, R. S., Quinlivan, R., Holton, J., Bodi, I., Wraige, E., Radunovic, A., von Landenberg, C., Reimann, J., Kamsteeg, E.-J., Sewry, C., Jungbluth, H., Voermans, N. C.
Publicado 2019