Fig. 1

The survival motor neuron (SMN) spot analysis among the spinal muscular atrophy (SMA) patients and carriers. (A–C) Percentage of SMN-spot⁺ cells (y-axis) with (A) SMA typing, (B) clinical subtype, and (C) copy number of SMN2 (x-axis). Details of each boxplot are given below the plot. The numerals given below the boxplot represent the number of participants (n). All patients are disease-modifying therapy (DMT)-naïve. (n = 37). (D, E) The percentage of SMN-spot⁺ cells (y-axis) in carrier group. (D) Mothers (ten) and fathers (eight) of SMA patients volunteered. (E) The relationship between SMN spot values in ten mothers (y-axis) and SMA severity in their children (x-axis). Statistical analysis was performed using Spearman’s rank correlation coefficient (two-tailed). Correlation coefficients (rs) and significance levels (p) are shown in the upper right side of the boxplots. (**p < 0.01, *p < 0.05). Details of the 37 patients with SMA and the 18 of carriers are presented in Additional file 1 and 4. Statistical analysis by the classification of patients with SMA and genetic carriers compared to historical control data is detailed in Additional File 3