Study demographics
| All R133C cases | Australia | Japan | United Kingdom | Other mutations | |
|---|---|---|---|---|---|
| *Comparing mean to other mutation group mean; †comparing mean of log(P/(1−P)), where P is the percentage of the less commonly expressed allele; ‡patients (9) from the United Kingdom not classified. | |||||
| No | 24 | 11 | 4 | 9 | 98 |
| Age (years) | |||||
| Mean | 14.8 | 14.6 | 10.4 | 17.0 | 13.9 |
| SD | 7.0 | 8.2 | 1.2 | 6.3 | 6.2 |
| Min | 4.9 | 4.9 | 9.6 | 5.5 | 2.0 |
| Max | 31.1 | 31.1 | 12.2 | 28.0 | 24.6 |
| p value, t test* | 0.5444 | 0.7477 | 0.2698 | 0.1575 | |
| X inactivation | |||||
| Random | 13 | 6 | 2 | 5 | 41 |
| Skewed | 2 | 2 | 0 | 0 | 29 |
| Not tested | 9 | 3 | 2 | 4 | 28 |
| p value, t test† | 0.0217 | 0.2269 | |||
| Classification‡ | |||||
| Mild (22%) | 3 | 3 | 19 | ||
| Classical (55%) | 7 | 0 | 55 | ||
| Early onset (23%) | 1 | 1 | 24 | ||