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Article

Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families.

Anesthesia and analgesia - 1 May 2012

Kaufmann Alexius, Kraft Birgit, Michalek-Sauberer Andrea, Weindlmayr Marta, Kress Hans G, Steinboeck Ferdinand, Weigl Lukas G

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a potentially lethal genetic disorder in response to volatile anesthetics and depolarizing muscle relaxants. To support the claim that a novel genetic variant causes MH, it is necessary to demonstrate that it has significant effects on the sensitivity of the ryanodine receptor (RYR1) calcium channel. In this study we focused on 2 Austrian families with strong MH...

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Source

Identifiers

PMID: 22415532
DOI: 10.1213/ANE.0b013e31824a95ad

Genes

RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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