Figure 2

Plasma glycine concentration and paraspinal muscle activity in SLC6A9 variant carriers.

(A) Plasma glycine concentration was measured in 15 AIS patients carrying SLC6A9 variants and 36 noncarrier controls (left panels). Plasma glycine concentration was measured in 6 adolescent patients carrying SLC6A9 variants and 29 adolescent controls (right panel). Boxes show the median and IQRs, with all individual data points superimposed. Orange dots represent III-6 and III-7 in family 1. Unpaired Student’s t test. **P = 0.0012; ***P = 0.00080. (B) Placing positions of bipolar electrodes. Electrodes were positioned at thoracic vertebra T9-11 in controls or at apex vertebra in AIS patients. (C) sEMG signals from healthy controls (left) and preadolescent AIS patients (right). Raw sEMG signals were collected from the paraspinal muscle at thoracic vertebra T9-11 in controls or at apex vertebra (T9-11) in patients during 5 seconds of standing in an upright posture. Blue and red represent left (L) and right (R) or concave and convex sEMG signals, respectively. (D) sEMG signals from adult AIS patient II-7, father of III-6 and III-7, in family 1. Raw sEMG signals were collected from the paraspinal muscle at apex vertebra T5-7 during 5 seconds of standing in an upright posture.