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. Author manuscript; available in PMC: 2020 Jun 11.
Published in final edited form as: Neurogenetics. 2019 Mar 23;20(2):73–82. doi: 10.1007/s10048-019-00574-5

Table 1.

Anthropometric and analytical data of case #1.

Age (y) 4 7 8 9
Weight (kg, P) 15.7 (P.25) N.D. 18.9 (P.3) 20 (P.3)
Height (cm) 103 (P.75) N.D. 124 (P.25) 130 (P.30)
Total fat (%) N.D. N.D. 12.8 N.D.
FFM (%) N.D. N.D. 80 N.D.
Tricipital S. (mm) N.D. N.D. 2 N.D.
Bicipital S. (mm) N.D. N.D. 2 N.D.
Subscapular S. (mm) N.D. N.D. 3 N.D.
Suprailiac S. (mm) N.D. N.D. 4 N.D.
Thigh S. (mm) N.D. N.D. 2 N.D.
Calf S. (mm) N.D. N.D. 2 N.D.
Glucose (mmol/L) 4.6 5.2 4.3 3.9
A1c (%) 4.8 N.D. 4.7 4.1
Creatinine (µmol/L) 40.7 59.5 30 46
Total cholesterol (mmol/L) 4.40 N.D. 5.31 5.51
LDL-cholesterol (mmol/L) 2.93 N.D. 3.86 N.D.
HDL-cholesterol (mmol/L) 0.88 N.D. 1.19 N.D.
Triglycerides (mmol/L) 1.28 N.D. 0.57 0.6
Insulin (mIU/L N.D. N.D. 9.2 N.D.
Leptin (ng/mL) N.D. N.D. <1.0 N.D.
AST (IU/L) 25 38 16 20
ALT (IU/L) 21 114 28 27
GGT (IU/L) N.D. 31 22 33
CK (IU/L) N.D. N.D. 70 38
TSH (mUI/L) N.D. 2.78 2.84 1.7

P: Percentile; N.D.: Not determined