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Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.

Anesthesia and analgesia - 1 Apr 2026

Yu Yao, Zhou Yang, Zhang Yiyin, Cong Zhukai, Tong Zexin, Wang Jiechu, Feng Luyang, Hou Tingting, Li Zhengqian, Guo Xiangyang, Qu Yinyin

Abstract excerpt

BACKGROUND: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disorder triggered by certain anesthetics, characterized by muscle rigidity, elevated body temperature, and hypermetabolic crisis. This condition is primarily associated with genetic mutations in ryanodine receptor 1 ( RYR1 ), which encodes the pivotal calcium release channel in the sarcoplasmic reticulum of skeletal muscle. While...

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Caffeine
Calcium
Calcium Signaling
HEK293 Cells
Malignant Hyperthermia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Ryanodine Receptor Calcium Release Channel

Source

Identifiers

PMID: 40408285
DOI: 10.1213/ANE.0000000000007584

Genes

RYR1

Variants

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

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Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.PMID 40408285Read ↗

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

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

Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.Semantic proximity Read ↗

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Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1Semantic proximity Read ↗

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