Skip to main content

Table 1 Clinical, enzymatic, and molecular information of 27 Chinese patients w ith late-onset Pompe disease

From: Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation

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. 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. 2 patient 23 and 24 are siblings; 3 patient 25, 26, 27 are siblings.