Mutations in the fifth transmembrane segment (S5) of the type 1 ryanodine receptor (RyR1) channel that lead to severe muscle disorders (VIDEO)
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Mutations in S5 of the RyR1 alter its activity and gating mechanisms, further impacting muscle health. These mutations lead to severe muscle disorders such as malignant hyperthermia and central core disease.
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Associate Professor Haruo Ogawa from Kyoto University, Japan
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