Table 3 The distribution of patients in the three subgroups
Genotype/subcellular localisation subgroups | N | Age +/-SD, Mean (years) | Age Median (years) | Age Minimum (years) | Age Maximum (years) |
|---|---|---|---|---|---|
Subgroup 1 | 21 | 22.9 ± 11.6 | 23.0 | 5.7 | 42.1 |
Two null-mutations (nonsense, frameshift, large truncation) | |||||
Subgroup 2 | 32 | 17.9 ± 7.6 | 17.9 | 6.0 | 35.0 |
Missense/in-frame dup/del localised to the ER | |||||
Subgroup 3 | 13 | 17.4 ± 7.8 | 17.3 | 5.4 | 29.0 |
Missense/in-frame dup/del localised to the lysosomes | |||||
Total | 66 | 19.4 ± 9.3 | 17.3 | 5.4 | 42.1 |