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. Author manuscript; available in PMC: 2014 Jan 29.
Published in final edited form as: Pediatr Res. 2011 Apr;69(4):293–298. doi: 10.1203/PDR.0b013e31820b937d

Table 1.

Characteristics of the bone study group and the Australian RTT population greater than 4 years who did not participate in the study

Bone study group
n=97
Remainder of RTT population >4 years
n=177
*Age mean±SD 15.00 ± 7.16 10.09 ± 7.10
**Epilepsy n(%)
 No 24(24.7%) 28(16.1%)
 Yes 73(75.3%) 146(83.9%)
§Mutation n(%)
 C-Terminal 12(12.4%) 10(5.9%)
 Large Deletion 7(7.2%) 7(4.1%)
 No Mutation 20(20.6%) 37(21.9%)
 Other 9(9.3%) 20(11.8%)
 p.R106W 3(3.1%) 5(3.0%)
 p.R133C 6(6.2%) 12(7.16%)
 p.R168X 10(10.3%) 9(5.3%)
 p.R255X 5(5.2%) 9(5.3%)
 p.R270X 3(3.1%) 12(7.1%)
 p.R294X 7(7.2%) 11(6.5%)
 p.R306C 6(6.2%) 7(4.1%)
 T158M 7(7.2%) 13(7.7%)
 Not tested 2(2.1%) 14(8.3%)
*

p=0.001

**

p=0.363

§

p=0.0833