What causes malignant hyperthermia?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

About 70% of patients with malignant hyperthermia have a mutation in the RYR1 gene. [29]  Malignant hyperthermia susceptibility 1 (MHS1) locus is the RYR1 gene. King-Denborough syndrome is included at this locus. Presentation is in childhood or adolescence usually with malignant hyperthermia. Non-progressive mild proximal weakness may be present. Mild dysmorphic facies and skeletal abnormalities such as short stature, pectus carinatum/excavatum, and scoliosis or kyphosis are often present. (See Complications for more information.)


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