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malignant hyperthermia


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A channelopathy in which calcium channels are defective, increasing susceptibility to severe and fatal hypothermia under anaesthesia. Malignant hyperthermia type 1 (MHS1) is caused by mutation in the ryanodine receptor gene. Several other loci for MHS have been identified: MHS2 on chromosome 17q, MHS3 on 7q, MHS4 on 3q, and MHS6 on 5p. MHS5 is caused by mutation in the CACNA1S gene that encodes a subunit of the voltage-dependent L-type calcium channel.


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