Table 2. SMA and Controls SMN Transcripts, Protein and Copy Number.
| SMA Type I | SMA Type II | SMA Type III | Control | |
| SMN2 Copy Number | N = 16 | N = 48 | N = 42 | N = 21 |
| mean (SD) | 2.5 (0.9) | 3.0 (0.7) | 3.5 (0.8) | 1.7 (1.1) |
| median [range] | 2.1 [1.8–5.2] | 2.9 [1.8–5.2] | 3.2 [2.2–5.9] | 1.3 [0.0–4.2] |
| SMN Protein (pg/106 cells) | N = 13 | N = 43 | N = 38 | N = 22 |
| mean (SD) | 10.1 (4.8) | 14.0 (7.3) | 14.7 (10.0) | 25.2 (19.6) |
| median [range] | 10.6 [2.3–19.4] | 12.8 [1.6–33.1] | 12.4 [3.1–45.8] | 18.8 [5.0–86.2] |
| SMN2-FL Transcripts (mol/ng) | N = 13 | N = 36 | N = 31 | N = 13 |
| mean (SD) | 38.3 (16.3) | 49.0 (18.6) | 58.1 (20.0) | 51.5 (22.3) |
| median [range] | 32.1 [19.1–70.2] | 48.9 [17.3–94.8] | 54.2 [31.8–111.2] | 55.6 [15.5–91.7] |
| SMN-FL Transcripts (mol/ng) | N = 13 | N = 36 | N = 31 | N = 13 |
| mean (SD) | 38.3 (16.3) | 49.0 (18.6) | 58.4 (19.7) | 134.1 (65.1) |
| median [range] | 32.1 [19.1–70.2] | 48.9 [17.3–94.8] | 54.2 [34.0–111.2] | 129.9 [40.9–259.8] |
| SMN-Δ7 Transcripts (mol/ng) | N = 13 | N = 36 | N = 31 | N = 13 |
| mean (SD) | 140.6 (69.8) | 202.6 (73.0) | 200.4 (97.5) | 115.2 (64.2) |
| median [range] | 133.5 [65.5–320.8] | 212.0 [54.4–316.9] | 188.9 [52.8–400.0] | 121.3 [16.2–236.9] |
| SMN-total Transcripts (mol/ng) | N = 13 | N = 36 | N = 31 | N = 13 |
| mean (SD) | 178.8 (76.5) | 251.6 (82.1) | 258.8 (110.5) | 249.4 (98.3) |
| median [range] | 163.1 [95.7–361.3] | 278.2 [78.3–367.8] | 247.4 [95.5–475.4] | 267.6 [63.9–448.8] |
| SMN2-FL/SMN-Δ7 Transcripts | N = 13 | N = 36 | N = 31 | N = 13 |
| mean (SD) | 0.31 (0.13) | 0.26 (0.09) | 34.1 (0.16) | 0.44 (0.15) |
| median [range] | 0.33 [0.13–0.52] | 0.27 [0.09–0.45] | 0.28 [0.14–0.81] | 0.42 [0.22–0.68] |
| GAPDH Transcripts (mol/ng) | N = 12 | N = 36 | N = 30 | N = 13 |
| mean (SD) | 4937.0 (1900.1) | 3662.0 (1870.4) | 3165.1 (757.5) | 4251.5 (2079.1) |
| median [range] | 4535.0 [2428.6–8180.0] | 3298.5 [1450.0–7860.0] | 3054.5 [1580.0–4520.0] | 3570.0 [2230.0–9330.0] |
Mean and median values of SMN transcripts, protein and copy number for SMA Type I, II, III and Controls. Transcript values are presented as number of molecules per ng of total RNA (mol/ng).