Table 3.
Proband’s Age at MH Crisis and Clinical MH Indices as per RYR1 Mutation
| RYR1 Mutation | Age (yr) | Onset t (min) | CGS |
|---|---|---|---|
| p.Gly341Arg | 23 | 25 | 55 ± 9 |
| [14–34] | [8–45] | ||
| p.Arg614Cys | 8 | 5 | 47 ± 21 |
| [6–32] | [2–5] | ||
| p.Arg614Leu | 12 | 2 | 46 ± 10 |
| [6–23] | [2–11] | ||
| p.Thr2206Met | 11 | 10 | 48 ± 16 |
| [5–25] | [5–79] | ||
| p.Arg2336His | 9.5 | 10 | 46 ± 11 |
| [7.75–11.25] | — | ||
| p.Ala2350Thr | 31.5 | 60 | 33 |
| [23.75–39.25] | — | ||
| p.Gly2375Ala | 41.5 | 33 | 50 ± 15 |
| [28.5–49.5] | [19–46] | ||
| p.Gly2434Arg | 6 | 12 | 46 ± 20 |
| [5.5–28.5] | [10–80] | ||
| p.Arg2454His | 13 | 98 | 45 ± 20 |
| [8.5–26] | [56–161] | ||
| Overall | 12 | 10 | 50 ± 17 |
| [6–32.5] | [5–60] |
Age and MH onset time are shown as median [interquartile range]; Clinical Grading Scale (CGS) score is expressed as mean ± SD. MH, malignant hyperthermia; RYR1, ryanodine receptor 1.