Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Autor: Kraeva, N., Heytens, L., Jungbluth, H., Treves, S., Voermans, N., Kamsteeg, E., Ceuterick-de Groote, C., Baets, J., Riazi, S. *
Zdroj: In Neuromuscular Disorders July 2015 25(7):567-576
Databáze: ScienceDirect