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 |