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. 2017 May 4;2017:1909101. doi: 10.1155/2017/1909101

Table 1.

Characteristics of enrolled participants (n = 8).

  Males Females
Participant number 1 2 3 4 5 6 7 8
Age 34 34 19 17 35 35 28 16
Classical/variant 2 Classical Variant Classical Variant Variant Classical Classical Variant
Mutation 4 IVS1nt5G>T;  
IVS12nt1G>A		 R408W;  
IVS12nt1G>A		 R408W;  
Y356X		 p.R68S;  
IVS12+1G>T		 E280K;  
E390G		 L242F;  
R408W		 p.F55>Lfs;  
R408W		 p.R157N;  
p.L348V
Total body                
 Total fat mass, % 35 34 36 11 42 39 26 30
 ALM/ht2, kg/m2 9.27 7.41 7.80 7.28 7.49 7.17 5.95 6.54
 BMD, g/cm2 1.131 0.938 1.113 1.078 1.233 1.077 1.035 1.166
 Z-score −1.6 −2.3 −0.7 −1.0 1.0 −0.3 0.0 0.8
Spine L1–L4                
 BMD, g/cm2 1.026 0.800 1.145 1.134 1.375 1.059 1.114 1.106
 Z-score −2.4 −3.3 −0.6 −0.6 1.2 −1.2 −0.2 −0.6
 Trabecular bone score 1.273 1.233 1.389 1.508 1.420 1.320 1.490 1.425
Femoral neck                
 BMD, g/cm2 0.925 X1 1.020 1.075 X 1.008 0.9732 1.025
 Z-score −1.5 X −0.7 −0.3 X −0.1 −0.12 0.2
Femoral trochanter                
 BMD, g/cm2 0.731 X 0.745 0.989 X 0.811 0.8522 0.962
 Z-score −2.4 X −1.8 0.3 X −0.3 0.42 1.4
Total dual femur                
 BMD, g/cm2 0.896 X 0.999 1.135 X 1.080 1.0812 1.134
 Z-score −1.8 X −0.9 0.1 X 0.6 0.92 0.9
Radius 33%                
 BMD, g/cm2 0.892 X 0.982 0.730 X 0.812 0.779 0.838
 Z-score −1.0 X N/A3 N/A3 X −0.7 −1.1 N/A3

 1Symbol represents data that was unable to be obtained at the time of DXA scan completion.

 2Femoral DXA parameters for one participant are based on the right femur only due to presence of metal in the left hip.

 3Z-Scores were unable to be calculated for 3 participants because reference population data for the 33% radius for individuals < 20 y were not in the GE-Healthcare Lunar database. AA-MF, amino acid medical food; ALM, appendicular lean mass; BMD, bone mineral density; DXA, dual X-ray absorptiometry; Spine L1–4, Spine Lumbar 1–4.