Table 1.
Clinical, enzymatic, and molecular information of 27 Chinese patients w ith late-onset Pompe disease
| No. | Gender/Age | Age of onset(years) | Age of diagnosis (years) | Initial symptoms | Family history | CK(IU/L) | Muscle pathology | lymphocyteGAA activity (pmol/punch/hr) 1 | GAA gene mutation | Requirement of ventilator support | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Allele1 | Allele2 | ||||||||||
| 1 | F/3 | 1.2 | 3 | Muscle weakness | No | 568 | Vacuolar myopathy | ND | c.503G > A | c.2237G > A | Yes |
| 2 | F/3.5 | 2 | 3.5 | Muscle weakness and adynamia in swallowing | No | 700 | Vacuolar myopathy | ND | c.503G > C | c.1082C > T | No |
| 3 | M/14 | 8 | 14 | Muscle weakness | No | 907 | Vacuolar myopathy | ND | c.796C > T | c.1309C > T | No |
| 4 | F/22 | 5 | 22 | Muscle weakness | No | 1101 | Vacuolar myopathy | ND | c.1562A > T | c.1781G > A | No |
| 5 | M/30 | 10 | 30 | Muscle weakness | No | 642 | Vacuolar myopathy | ND | c.503G > A | c.2237G > A | No |
| 6 | F/23 | 21 | 21 | Limb girdle weakness | No | 1047 | ND | 0 | c.1355delC | c.2238G > C | Yes |
| 7 | M/17 | 17 | 17 | Muscle weakness | No | 1413 | ND | ND | c.2238G > C | c.2238G > C | No |
| 8 | M/12 | 12 | 12 | Muscle weakness | No | 1365 | Vacuolar myopathy | 3.15 | c.871C > T | c.2238G > C | No |
| 9 | M/23 | 21 | 21 | Limb girdle weakness | No | 2391.6 | ND | 2.25 | c.323G > A | c.2014C > T | No |
| 10 | M/14 | 6 | 13 | Respiratory insufficiency | No | 637 | Vacuolar myopathy | 3.96 | c.1935C > A | c.2238G > C | No |
| 11 | F/17 | 3 | 4 | High level of serum CK | No | 1227 | Vacuolar myopathy | 0.25 | c.2238G > C | c.2662G > T | No |
| 12 | F/15 | 10 | 13 | Limb girdle weakness | No | ND | Vacuolar Myopathy | 4.04 | c.2238G > C | No | |
| 13 | F/24 | 12 | 20 | Muscle weakness | No | 1200 | Vacuolar myopathy | 1.15 | c.1561G > A | c.2161G > T | Yes |
| 14 | F/25 | 15 | 23 | Muscle weakness | No | 662.6 | Vacuolar myopathy | ND | c.1315_1317delATG | c.2238G > C | Yes |
| 15 | F/35 | 29 | 35 | Muscle weakness | No | 406 | Vacuolar myopathy | 3.54 | c.1082C > T | No | |
| 16 | F/33 | 32 | 32 | High level of serum CK | No | 927 | Vacuolar myopathy | 3.32 | c.-32-13 T > G | c.2662G > T | No |
| 17 | M/32 | 28 | 32 | Muscle weakness | No | 117 | Vacuolar myopathy | 8.05 | c.1634C > T | c.2662G > T | No |
| 18 | F/35 | 25 | 25 | Sleep disordered breathing | No | 79 | Vacuolar myopathy | ND | c.2238G > C | c.2431delC | Yes |
| 19 | M/20 | 19 | 20 | Limb girdle weakness | No | 800 | Vacuolar myopathy | 3.46 | c.1634C > T | c.1993G > A | Yes |
| 20 | F/23 | 23 | 23 | Respiratory insufficiency | No | 345 | Vacuolar myopathy | 5.98 | c.1551 + 3_c.1551 + 6delAAGT | c.2238G > C | Yes |
| 21 | F/32 | 23 | 30 | Muscle weakness | No | 139 | Vacuolar myopathy | 1.1 | c.1935C > A | c.2238G > C | Yes |
| 22 | F/14 | 9 | 14 | Limb girdle weakness | No | 970 | Vacuolar myopathy | ND | c.2446G > A | c.2662G > T | No |
| 232 | F/30 | 24 | 30 | Muscle weakness | Yes | 563 | ND | ND | c.1396delG | c.2238G > C | No |
| 242 | F/28 | 23 | 28 | Muscle weakness | Yes | 746 | ND | ND | c.1396delG | c.2238G > C | No |
| 253 | M/24 | 16 | 22 | respiratory insufficiency and fatigue | Yes | 790 | ND | 0 | c.241C > T | c.2238G > C | Yes |
| 263 | F/31 | 12 | 28 | Muscle weakness | Yes | ND | ND | 0.6 | c.241C > T | c.2238G > C | No |
| 273 | F/29 | 27 | 27 | Limb girdle and muscle weakness | Yes | 303 | ND | 0.44 | c.241C > T | c.2238G > C | Yes |
1 The median activities of 19 normal controls and 14 carriers were 36.37(range, 15.16–297.86) and 24.77 (range, 11.84–43.97) pmol/punch/hour, respectively.
2 patient 23 and 24 are siblings; 3 patient 25, 26, 27 are siblings.