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

Highlights • Causative RYR1 mutations allow diagnosis of susceptibility to malignant hyperthermia. • The RYR1 mutation p.Arg4737Trp has been recently detected in a German MH family. • Functional properties of p.Arg4737Trp are consistent with malignant hyperthermia susceptibility.

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Veröffentlicht in:	Neuromuscular disorders : NMD 2016-01, Vol.26 (1), p.21-25
Hauptverfasser:	Johannsen, Stephan, Treves, Susan, Müller, Clemens R, Mögele, Susanne, Schneiderbanger, Daniel, Roewer, Norbert, Schuster, Frank
Format:	Artikel
Sprache:	eng
Schlagworte:	Anesthetics - pharmacology Arginine - genetics B-Lymphocytes - drug effects Caffeine - pharmacology Calcium release, 4-chloro-m-cresol Cell Line, Transformed Cresols - pharmacology Family Health Female Fungicides, Industrial - pharmacology Genetic Predisposition to Disease - genetics Germany Halothane - pharmacology Humans In vitro contracture test Male Malignant hyperthermia Malignant Hyperthermia - genetics Malignant Hyperthermia - pathology Muscle Contraction - drug effects Muscle Contraction - genetics Muscle, Skeletal - drug effects Muscle, Skeletal - physiopathology Mutation Neurology Phosphodiesterase Inhibitors - pharmacology Polymorphism, Single Nucleotide - genetics Ryanodine receptor Ryanodine Receptor Calcium Release Channel - genetics Tryptophan - genetics
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Zusammenfassung:	Highlights • Causative RYR1 mutations allow diagnosis of susceptibility to malignant hyperthermia. • The RYR1 mutation p.Arg4737Trp has been recently detected in a German MH family. • Functional properties of p.Arg4737Trp are consistent with malignant hyperthermia susceptibility.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2015.11.001