Table 1.
Genetic analysis information of 39 Italian patients with late-onset glycogen storage disease. Reference value of activity enzyme is (≥6 nmol/mL/h).
| Subject | Age | Family History | Gender F Female M Male |
α-Glucosidase Activity (DBS) |
Variant 1 | Variant 2 |
|---|---|---|---|---|---|---|
| #1 | 57 | yes | F | 2.1 | c.-32-13T>G | c.1655 T>C L552P |
| #2 | 54 | yes | M | 0.7 | c.-32-13T>G | c.1655 T>C L552P |
| #3 | 38 | no | M | 0.8 | c.-32-13T>G | c.2431 delC |
| #4 | 45 | no | M | 0.6 | c.-32-13T>G | c.2242dupG |
| #5 | 21 | no | M | 1.6 | c.-32-13T>G | c.1655 T>C L552P |
| #6 | 2 | no | M | 0.6 | c.-32-13T>G | c.1927 G>A G643R |
| #7 | NS | no | M | 0.8 | c.-32-13T>G | c.1465 G>A D489N |
| #8 | 10 | no | M | 1.4 | c.-32-13T>G | c.2238 G>A W746 |
| #9 | 54 | no | M | 1.5 | c.-32-13T>G | c.2560 C>T R854 |
| #10 | 49 | no | F | 1.3 | c.-32-13T>G | c.1210 G>A D404N |
| #11 | 63 | yes | M | 0.9 | c.-32-13T>G | c.526 delG E176R fs45 |
| #12 | NS | no | NS | 0.9 | c.-32-13T>G | c.784 G>A E262K |
| #13 | 82 | yes | M | 1 | c.-32-13T>G | c.784 G>A E262K |
| #14 | 33 | yes | F | 1.3 | c.-32-13T>G | c.525 delT E176R fs45 |
| #15 | 9 | yes | M | 1.5 | c.-32-13T>G | Del ex18 |
| #16 | 35 | no | F | 5.4 | c.670 C>T | c.861C>T |
| #17 | 5 | si | M | 1.1 | c.-32-13T>G homozygous |
|
| #18 | 2 month | no | M | 0.4 | c.1465 G>A D489N | c.2238 G>A W746 |
| #19 | 78 | no | M | 1.5 | c.-32-13T>G homozygous |
|
| #20 | 24 days | no | M | 0 | c. 1565 C>G P522R homozygous | |
| #21 | 58 | no | M | 0.8 | c.-32-13T>G homozygous |
|
| #22 | 59 | yes | M | 0.7 | c.-32-13T>G homozygous |
|
| #23 | 52 | yes | M | 1.6 | c.-32-13T>G homozygous |
|
| #24 | 3 month | no | M | 0.9 | c.526 delG E176R fs45 | c.2104 C>T R702C |
| #25 | 11 month | no | F | 0.5 | c.1655 T>C L552P | c.2161 ins G E721G fs16 |
| #26 | 1 month | no | F | 0.9 | c.784 G>A E262K | Deletion on exon 9 and 19 |
| #27 | 42 | yes | M | 5 | c.784 G>A E262K | Deletion on exon 9 and 17 |
| #28 | 7 | no | F | 0.4 | c.784 G>A E262K | C.1979 G>A R660H |
| #29 | 5 month | no | M | 0.4 | c.1327-18 A>G | c.1655 T>C L552P |
| #30 | 7 | no | F | 1.1 | c.784 G>A E262K | c.1979 G>A R660H |
| #31 | 12 | no | F | 0.5 | c.2012 T>A M671K homozygous | |
| #32 | 6 mouth | no | M | 0.8 | c.1437+2 T>C | c.1655 T>C L552P |
| #33 | 53 | no | M | 20.3 | c.-32-13T>G | c.1551 +1 G>C |
| #34 | 47 | yes | F | 5.4 | c.-32-13T>G | c.655 G>A G219R |
| #35 | 15 | no | M | 4.2 | c.2332-40 C>G homozygous | |
| #36 | 70 | yes | F | 3.3 | c.-32-13T>G | c.1551+1 G>C etero |
| #37 | 45 | no | M | 0.6 | c.-32-13T>G | c.2242dupG E748G |
| #38 | 24 | yes | M | 3.3 | c.-32-13T>G | Deletion on exon 18 |
| #39 | 54 | yes | F | 0.6 | c.118 C>T R40 | c.2647-7 G>A |