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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