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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
  1. Disease duration is calculated as time between the presentation of first symptoms and first examination in our hospital
  2. aFor patients who didn’t perform lung function testing in supine position the value obtained in sitting position was used. For one patient using 24 h invasive ventilation a value of 0 % was used in the analyses