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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 3.

Mean body composition measures (SD) by mutation group

Mutation Height z-score BA/Height LTM/Height TBBMC/LTM TBBMC/BA
Carboxyl-terminal truncation −0.88(2.58) −0.58(2.05) −1.13(1.65) 1.16(1.98) 0.67(1.78)
Large deletion 0.64(2.89) −2.21(1.30) −1.40(1.15) −0.40(1.94) 0.69(1.56)
No mutation −1.14(1.80) −1.28(1.81) −1.34(1.51) 0.07(1.24) 0.03(1.21)
Other −1.66(2.53) −0.71(1.53) −1.28(1.14) −0.04(1.55) −1.10(1.01)
p.R106W −1.87(2.05) −2.89(2.05) −1.90(1.43) 0.27(0.67) 2.21(1.03)
p.R133C −1.67(3.34) 0.65(1.53) −0.45(1.18) 2.16(1.44) 0.72(1.19)
p.R168X −2.17(2.40) −1.78(2.85) −0.87(2.49) −0.84(1.85) 0.37(1.29)
p.R255X −0.80(2.26) −1.91(1.09) −0.87(0.75) −0.66(0.79) 1.06(1.74)
p.R270X −3.55(1.41) −0.06(1.16) −0.18(0.47) 0.38(0.41) 1.02(3.11)
p.R294X −1.09(1.58) 0.60(1.16) −0.14(2.25) 0.58(1.40) −0.30(0.86)
p.R306C 1.19(2.73) −0.33(1.97) −0.16(1.40) −0.11(1.26) 0.00(0.50)
p.T158M −1.00(2.38) −1.94(1.53) −2.52(1.48) 1.47(3.02) 0.32(1.68)
TOTAL −1.10(2.43) −1.02(1.97) −1.10(1.62) 0.32(1.78) 0.28(1.48)