Table 1 Patient demographics
From: Follow-up analysis of voice quality in patients with late-onset Pompe disease
ID | Gender | Current age years | Age of first symptoms years | Mutation | Years on ERT |
|---|---|---|---|---|---|
1 | F | 14.8 | no symptoms, family screening | IVS1-13 T > G/c.2662G > T | 10 |
2 | M | 18.8 | no symptoms, family screening | IVS1-13 T > G/c.2662G > T | 10 |
3 | M | 28.6 | 6 | IVS1-13 T > G/c.2662G > T | 10 |
4 | F | 10.5 | 1 | 2495delCA(ex18)/2495 delCA (ex18) | 9.5 |
5 | M | 11.5 | no symptoms, family screening | G377S c.2495_2496 delCA | 9 |
6 | F | 17.8 | 3 | C1129G > A/c.2495_2496 delCA | 11 |
7 | M | 20.8 | 3.5 | IVS1-13 T > G/c.925G > A | 10 |
8 | F | 43 | 6 | c.364A > G/c.1796C > T | 10 |
9 | F | 34 | 7 | IVS1-13 T>/C103G | 10 |
10 | M | 40.5 | 27 | c.364A > G/c.1796C > T | 10 |
11 | M | 49.5 | 35 | IVS1-13 T > G/c.307 T > G | 10 |
12 | M | 37.8 | 15 | IVS1-13 T > G/c.307 T > G | 10 |
13 | M | 56.8 | 33 | IVS1-13 T > G/C103G, c.307 T > G | 11 |
14 | M | 40.8 | 28 | IVS1-13 T > G/c.307 T > G | 8 |
15 | F | 36.8 | 26 | IVS1-13 T > G/c.307 T > G | 8 |