Table 1.
Known Malignant Hyperthermia (MH) Causative Mutations
| Amino Acid Substitution |
Exon | Cases (n) |
|---|---|---|
| Arg163Cys | 6 | 2 |
| Gly248Arg | 9 | 2 |
| Gly341Arg | 11 | 2 |
| Arg614Cys | 17 | 5 |
| Arg2163His | 39 | 1 |
| Val2168Met | 39 | 1 |
| Thr2206Met | 40 | 4 |
| Gly2434Arg | 45 | 7 |
| Arg2454His | 45 | 1 |
| Arg4861His | 101 | 1 |
Known MH-causative mutations were found in 26 subjects, 21% of the total in this study (95% CI 5%–37%).
There is no statistically significant difference in the frequency of these mutations in this sample.
The subject with Val2168Met had central core disease (CCD) diagnosed by histopathology.
The anesthetic details that are available about each of these cases are presented in the Web Supplement.