Article
Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis.
Anesthesia and analgesia - 1 Nov 2011
Broman Marcus, Heinecke Kai, Islander Gunilla, Schuster Frank, Glahn Klaus, Bodelsson Mikael, Treves Susan, Müller Clemens
Abstract excerpt
BACKGROUND: A diagnosis of malignant hyperthermia (MH) can be determined by performing an in vitro (muscle) contracture test (IVCT) or by identifying a known MH causative mutation in the ryanodine receptor 1 gene (RYR1). Genetic diagnosis has an advantage over IVCT because it is less invasive. Direct sequencing of the very large RYR1 coding region (15.117 bases) is a laborious and expensive task. In this study,...
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