An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
Lopez RJ, Byrne S, Vukcevic M, Sekulic-Jablanovic M, Xu L, Brink M, Alamelu J, Voermans N, Snoeck M, Clement E, Muntoni F, Zhou H, Radunovic A, Mohammed S, Wraige E, Zorzato F, Treves S, Jungbluth H.
Lopez RJ, et al. Among authors: jungbluth h.
Sci Signal. 2016 Jul 5;9(435):ra68. doi: 10.1126/scisignal.aad9813.
Sci Signal. 2016.
PMID: 27382027