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Article

Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.

Anesthesia and analgesia - 1 Oct 2015

Miyoshi Hirotsugu, Yasuda Toshimichi, Otsuki Sachiko, Kondo Takashi, Haraki Toshiaki, Mukaida Keiko, Nakamura Ryuji, Hamada Hiroshi, Kawamoto Masashi

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a pharmacogenetic disorder that occurs in predisposed individuals after exposure to volatile anesthetics or depolarizing muscle relaxants. Genetic mutations of ryanodine receptor 1 (RYR1), which are considered to cause MH, are found mainly in 3 regions called "hotspots." There are sometimes multiple mutations at the same site of RYR1. Although p.Arg2508 of RYR1 is...

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Identifiers

PMID: 26381711
DOI: 10.1213/ANE.0000000000000886

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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