Table 3 South Florida GD1 patients: Mean DS3 scores per genotype category
Genotype | Mean DS3 score (SD) | 95% CI | P value (T test) |
|---|---|---|---|
N370S/N370S (N = 48) | 3.86 (2.31) | 3.21-4.51 | Reference |
N370S/84 GG compound heterozygote (N = 4) | 6.98 (1.85) | 5.17-8.79 | NS |
N370S/L444P (N = 10) | 6.82 (1.08) | 6.15-7.49 | 0.018 |
N370S/unidentified (N = 5) | 4.30 (2.20) | 2.37-6.23 | NS |
N370S/V394L (N = 5) | 4.80 (2.29) | 2.79-6.81 | NS |
N370S/L444P or 84GG compound heterozygotes and (N = 14) | 6.86 (1.26 | 5.60-8.12 | 0.021 |
N370S/Y212H (N = 2 sisters) | 9.33; 4.17 |  |  |
N370S/IVS2 + 1 (N = 2) | 8.93; 2.33 |  |  |
N370S/F216Y (N = 1) | 1.83 |  |  |
N370S/RecNCI1 (N = 1) | 10.17 |  |  |
N370S/Y135X (N = 1) | 8.00 |  |  |
R463C/K198 (N = 1) | 5.08 |  |  |
L444P/unidentified (N = 1) | 2.50 |  |  |