Skip to main content
. Author manuscript; available in PMC: 2024 Dec 9.
Published in final edited form as: Am J Med Genet A. 2023 Dec 29;194(5):e63472. doi: 10.1002/ajmg.a.63472

Table 2. Results of body composition measurements, investigated by BIA and/or DEXA scan.

Individual (study ID) 19 32 45 52 53 58 99
Baseline Age 15.4 12.8 4.9 7.5 11.4 8.8 13.3
Weight (kg) 55.7 44.2 18.4 37 62.8 50.3 72.1
BMI (kg/m2) 22.19 18.44 16.1 21.6 26.6 24.6 27.68
BMI Z-score 0.98 0.23 0.2 2.8 2.8 3.23 2.65
BIA BF% 33.5 - - 35.5 38 42.7 35.6
Visceral fat area (cm2) 88.4 - - 69.6 123.9 128.8 125.8
SMM total (kg) 20 - - 12 20 15.1 25.6
SMMa(kg)a  14.15 - 7.71 11.97 13.77 18.79
SMMa (kg) in healthy individualsb 16.2 ± 2.6 - - 6.1 ± 1.4 12.8 ± 3.0 9.1 ± 2.5 12.8 ± 3.0
SMMa (% SMMa of weight) 25.4 - - 20.8 19.1 27.4 26.1
SMMa (%) in healthy individualsb 29.6 ± 3.8 - - 27.1 ± 2.4 28.3 ± 4.3 27.1 ± 4.2 28.3 ± 4.3
Skeletal muscle index (kg/m2) 5.7 4.5 6.1 5.8 7.2
DEXA BF% - 37.6 39 - 44.2 - -
Visceral fat area (cm2) - 64.9 21.5 - 107 - -
Lean mass/height2 Z-score - –2.3 - - 0.4 - -
Skeletal muscle index (kg/m2) 4.37 2.64 5.91

Abbreviations: BF%, body fat percentage; BIA, bioelectrical impedance analysis; DEXA, dual-energy X-ray absorptiometry; SMMa, appendicular skeletal muscle mass.

a

Appendicular skeletal muscle mass: skeletal muscle mass of arms and legs.

b

Sex- and age-matched healthy controls, based on results of McCarthy et al. (2014).