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) |