Table 2 Summary of clinical and biochemical data assessed in the different Allele 2 groups, and statistical analysis (p)
From: Genotype-phenotype correlation in Pompe disease, a step forward
Allele 2 | Presence of pain, % [68] | Walton score | 6 MWT | VC % | CK |
|---|---|---|---|---|---|
Median, (IQR), [77] | Median, (IQR), [43] | Median, (IQR), [43] | Median, (IQR), [40] | ||
c.525delT | 38.9 [7/18] | 2.25 (2 – 3.1) [20] | 313 (196–386 ) [9] | 61.0 (49.0 - 71.0) [9] | 3.3 (2.3 - 4.0) [8] |
c.2237G > A | 33.3 [ 3/9] | 2.25 (1.2 -4.5) [10] | 144 (65–244) [4] | 87.5 (59.7 - 89.0) [6] | 1.35 (0.7 - 3.1) [6] |
Delexon18 | 20.0 [1/5] | 1.0 (3–0) [5 ] | 378 (194–432) [5] | 67.0 (56.0 -78.0) [5] | 0.8 (0.8 - 1.5) [5] |
c.1927 G > A | 20.0 [1/5] | 3.0 (2–0) [5 ] | 307 (199–333) [3] | 57.5 (47.7- 65.5) [4] | 3.0 (1.9 - 6.3) [3] |
VS | 33.3 [4/12] | 3.0 (4–0) [13] | 292 (208–375) [2] | 43.5 (32.7 - 54.2) [2] | 2.8 (1.7 - 3.8) [2] |
PLS | 52.6 [10/19] | 3.0 (4–0) [24] | 368 (256–394) [12] | 68.1 (63.0 - 79.3) [17] | 1.8 (1.5 - 3.0) [16] |
p | 0,655 | 0,7021 | 0.493 | 0.461 | 0.170 |