In addition to the RYR1 mutations listed below there are two mutations in the dihydropyridine recepter (Gen: CACNA1S) which are accepted as diagnostic mutations by the EMHG.
- p.Arg1086His c.3257G>A
- p.Arg174Trp c.520C>T
Weiss RG, O’Connell KM, Flucher BE, Allen PD, Grabner M, Dirksen RT. Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol 2004; 287: C1094-102
Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, Lopez JR, Beam KG, Allen PD: Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. Proc Natl Acad Sci U S A 2012; 109: 7923-8
Please note that in the following table causative (=diagnostic) mutations are labelled with a 'Yes'.
Those labelled with a 'No' have not been functionally investigated and are therefore not diagnostic. They might still be associated with MH.