Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.

Johannsen, Stephan

Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. [electronic resource] - Neuromuscular disorders : NMD Jan 2016 - 21-5 p. digital

Publication Type: Journal Article

1873-2364

10.1016/j.nmd.2015.11.001 doi


Anesthetics--pharmacology
Arginine--genetics
B-Lymphocytes--drug effects
Caffeine--pharmacology
Cell Line, Transformed
Cresols--pharmacology
Family Health
Female
Fungicides, Industrial--pharmacology
Genetic Predisposition to Disease--genetics
Germany
Halothane--pharmacology
Humans
Male
Malignant Hyperthermia--genetics
Muscle Contraction--drug effects
Muscle, Skeletal--drug effects
Phosphodiesterase Inhibitors--pharmacology
Polymorphism, Single Nucleotide--genetics
Ryanodine Receptor Calcium Release Channel--genetics
Tryptophan--genetics