FIGURE 1.
Mixed‐effect model comparing SMN protein levels in whole blood among patients with SMA with two, three, and four SMN2 copies (A) and among different SMA types (B) early in life. A, Patients with SMA were divided according to SMN2 copies, including nine patients with two SMN2 copies, 13 patients with three SMN2 copies, and one patient with four SMN2 copies. B, Patients with SMA were divided according to clinical symptoms, including nine patients who were presymptomatic, six patients with SMA type 1, six patients with SMA type 2, and two patients with SMA type 3. Among the nine patients with SMA who were presymptomatic, one patient had four SMN2 copies, one patient had three SMN2 copies, and seven patients had three SMN2 copies. SMA, spinal muscular atrophy; SMN, survival motor neuron; SMN2, survival motor neuron 2 gene [Color figure can be viewed at wileyonlinelibrary.com]