Table 1.
Characteristics of patients with Pompe disease
| No. | Sex | Age at detection of cardiomegaly | Age at onset of weakness | Creatine kinase level (U/L) | Age at start of ERT | Status at start of ERT | Current age (age died) | Current status (at death) | Mutations |
|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 2 years 6 months | 2 years | 1,235 | 5 years | Walk with support | 13 years | Walk freely | c.875A > G/c.1857C > G |
| 2A | F | 2 years | 5 years | Elevated | – | – | (7 years) | (Walk with support) | c.872T > C/c.1798C > T* |
| 2B | M | 3 months | – | 744 | 3 months | Normal | 2.5 years | Walk freely | c.872T > C/c.1798C > T* |
| 3A | F | 1 month | 1 year 3 months | 741 | 8 years | Walk with support | 15 years | Unable to walk | c.2407_13del/c.1316T > A* |
| 3B | M | 1 month | 5 years | 562 | – | – | (6 years) | (Walk with support) | c.2407_13del/c.1316T > A* |
| 4 | F | 3 years | 3 years | 104 | – | – | (7 years) | (Unable to walk) | c.1082C > T*/c.1432G > A* |
*reported mutation