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Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications

11 Aug 2025

Abstract excerpt

Background: Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle triggered by certain anesthetic agents. While Ryanodine Receptor 1 (RYR1) and Calcium Voltage-Gated Channel Subunit Alpha1 S (CACNA1S) are well-established susceptibility genes, the complete genetic basis of MH remains unclear, particularly in Asian populations. Methods: We conducted gene panel testing targeting 24...

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PMID: 40869992
DOI: 10.3390/genes16080944

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