Table 1 Frequency of the different mutations observed in our sample
From: Genotype-phenotype correlation in Pompe disease, a step forward
Mutations Allele 1 Allele 2 | N° of pts. | % | |
|---|---|---|---|
c.-32-13T > G (N = 85) | c.525delT | 21 | 24,7 |
c.2237G > A | 13 | 15,3 | |
Delexon18* | 7 | 5,8 | |
c.1927G > A | 5 | 5,8 | |
Very severe (VS) | 13 | 17,6 | |
Potentially less severe (PLS) | 26 | 30,5 | |