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Article

Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific reports - 9 Feb 2021

Hoppe Kerstin, Jurkat-Rott Karin, Kranepuhl Stefanie, Wearing Scott, Heiderich Sebastian, Merlak Sonja, Klingler Werner

Abstract excerpt

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle metabolism characterized by generalized muscle rigidity, increased body temperature, rhabdomyolysis, hyperkalemia and severe metabolic acidosis. The underlying mechanism of MH involves excessive Ca2+ release from myotubes via the ryanodine receptor type 1 (RYR1) and the voltage-dependent L-type calcium channel (CACNA1S). As more than 300...

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Identifiers

PMID: 33564012
DOI: 10.1038/s41598-021-82024-7
PMCID: PMC7873245

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