Table 2.
Sex Distribution by Phenotype Group and RYR1 Genotype (Upper Section) and Penetrance, Likelihood to Develop MH, and Exposure Rate by Sex (Lower Section)
| Males |
Females |
|||
|---|---|---|---|---|
| RYR1 mutation | Proband | Relative | Proband | Relative |
| p.Gly341Arg | 8 | 6 | 3 | 11 |
| p.Arg614Cys | 18 | 15 | 12 | 18 |
| p.Arg614Leu | 3 | 2 | 2 | 1 |
| p.Thr2206Met | 11 | 19 | 6 | 17 |
| p.Arg2336His | 2 | 2 | 1 | 3 |
| p.Ala2350Thr | 3 | 2 | 0 | 2 |
| p.Gly2375Ala | 4 | 3 | 0 | 4 |
| p.Gly2434Arg | 9 | 4 | 3 | 5 |
| p.Arg2454His | 4 | 9 | 3 | 10 |
| N | 62 | 62 | 30 | 71 |
| # Exposures | 87 | 110 | 34 | 126 |
| Penetrance | 50 ± 0.11* | 29.7 ± 0.18 | ||
| Exposures | 1 [1-1] | 1 [1-1] | ||
| P MH-all | 0.31 ± 0.09 | 0.19 ± 0.12 | ||
| P MH-probands | 0.71 ± 0.16 | 0.88 ± 0.14 | ||
Sex data were missing in one proband and three relatives. Penetrance and PMH are expressed as mean ± SD; Exposures as median [interquartile range]. MH, malignant hyperthermia; RYR1, ryanodine receptor 1.
*
P < 0.01.