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Table 1 Patient characteristics a

From: Phenotypical variation within 22 families with Pompe disease

 

Total

Patients

50

Gender: males (%)

24 (48)

Median age at symptom onset in years (range)b

33 (1–62)

Median age at diagnosis in years (range)c

39 (0–72)

Current median age in years (range)

53 (5–79)

Mobility (%)

▪ Ambulant

30 (60)

▪ Walking aids

6 (12)

▪ Wheelchair-dependent

14 (28)

Ventilator-dependent (%)

14 (28)

α-Glucosidase activity in fibroblasts (nmol MU/mg.h)d

13 (8–18)

Families

22

Families with genotype (%)

▪ c.-32-13 T > G/c.525delT (r.0)

12 (55)

▪ c.-32-13 T > G/c.378_379del (p.Cys127LeufsX18)

2 (9)

▪ c.-32-13 T > G/c.925G > A (p.Gly309Arg)

2 (9)

▪ c.-32-13 T > G/other pathogenic mutation

6 (27)

  1. aData are numbers with percentages or medians with ranges. bThe median age at onset of symptoms is calculated for 47 patients because three patients are asymptomatic. cOne patient was diagnosed at birth because she had a brother with Pompe disease, but she was asymptomatic. dControl range 40–180 nmol MU/mg.h.