Table 1

Study demographics

All R133C casesAustraliaJapanUnited KingdomOther 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.
Age (years)
p value, t test*0.54440.74770.26980.1575
X inactivation
    Not tested932428
p value, t test†0.02170.2269
    Mild (22%)3319
    Classical (55%)7055
    Early onset (23%)1124