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Functional analysis and classification of six RYR1 variants in Japanese patients with malignant hyperthermia.

British journal of anaesthesia - 1 Sept 2026

Xia Guoqiang, Otsuki Sachiko, Mukaida Keiko, Xu Miao, Kido Kenshiro, Sumii Ayako, Ishii Tomomi, Katsura Yoshihiro, Suzuki Yuji, Kamiya Satoshi, Narasaki Soshi, Yeh Huei-Ming, Chen Pei-Lung, Tsutsumi Yasuo M, Miyoshi Hirotsugu

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disorder triggered by volatile anaesthetics or depolarising neuromuscular blockers, characterised by dysregulated calcium homeostasis in skeletal muscle. Dysfunction of ryanodine receptor type 1 (RYR1) because of genetic variants plays a central role in MH. Functional evaluation of newly identified RYR1 variants is essential for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Malignant Hyperthermia

Ryanodine Receptor Calcium Release Channel

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PMID: 42493390
DOI: 10.1016/j.bja.2026.04.085

Genes

RYR1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Functional analysis and classification of six RYR1 variants in Japanese patients with malignant hyperthermia.PMID 42493390Read ↗

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