Functional Characterization of Patient-Derived Myotubes Carrying ANO5 and ORAI3 Variants in RYR1-Negative Malignant Hyperthermia Susceptibility.

doi:10.3390/genes17080980

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Article

Functional Characterization of Patient-Derived Myotubes Carrying ANO5 and ORAI3 Variants in RYR1-Negative Malignant Hyperthermia Susceptibility.

Genes - 20 Aug 2026

Miyoshi Hirotsugu, Otsuki Sachiko, Kido Kenshiro, Sumii Ayako, Ikeda Tsuyoshi, Xia Guoqiang, Noda Yuko, Ishii Tomomi, Kamiya Satoshi, Narasaki Soshi, Yeh Huei-Ming, Chen Pei-Lung, Ichihara Yasuko, Mukaida Keiko, Tsutsumi Yasuo M

Abstract excerpt

BACKGROUND/OBJECTIVES: Malignant hyperthermia (MH) is a life-threatening pharmacogenetic disorder of skeletal muscle primarily associated with pathogenic variants in RYR1; however, a substantial proportion of MH-susceptible individuals lack identifiable variants in known genes. This study aimed to identify novel genetic contributors in Ca2+-induced Ca2+ release (CICR)-positive patients without RYR1 variants and...

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