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Article

Novel ryanodine receptor mutation that may cause malignant hyperthermia.

Anesthesiology - 1 Sept 2008

Kaufmann Alexius, Kraft Birgit, Michalek-Sauberer Andrea, Weigl Lukas G

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a hypermetabolic condition caused by a genetic disposition leading to increased Ca release from the sarcoplasmic reticulum after exposure to triggering agents. In the authors' ongoing evaluation of patients undergoing MH testing in Austria, they detected a family with a new variant of the ryanodine receptor 1. Guidelines suggest that genetic tests are possible only for...

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PMID: 18719443
DOI: 10.1097/ALN.0b013e318182a93b

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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