Table 3 Comparison of patients with the c.-32–13T > G mutation and other mutations at the time of examination
From: Childhood Pompe disease: clinical spectrum and genotype in 31 patients
All | c.-32–13T > G | Other mutations | P-value | |
|---|---|---|---|---|
Patients | 31 | 21 | 10 | – |
M/F | 22/9 | 18/3 | 4/6 | |
Age first symptom (median) | 2.6 (0.5–13) | 2 (0.5–13) | 4.0 (0.5–10) | 0.6 |
Age diagnosis (median) | 4.0 (0–16) | 3.0 (0–16) | 4.5 (1–15) | 0.6 |
Age at examination (median) | 10.1 (0.1–17.1) | 10.7 (0.1–17.1) | 10 (1.3–16.4) | 0.7 |
Disease duration (median) | 5.1 (0.8–12.7) | 6.5 (1.3–12.7) | 4.1 (0.8–11.5) | 0.2 |
Diagnosed pre-symptom. | 10 | 9 | 1 | – |
Still symptom free | 5 | 4 | 1 | – |
HHD sumscore (%) | 55 (n = 24) | 58 (n = 18) | 36 (n = 6) | 0.02 |
FVC pred sitting (%)a | 82 | 82 | 58 | 0.15 |
FVC pred supine (%)a | 79 | 80 | 55 | 0.08 |