Table 1 Pompe disease fibroblast cell lines, phenotype, genotype and residual GAA activity

1

severe

c.1101G>A/c.1927G>A

p.W367X/p.G643R

0.3%

2

intermediate

c.1655T>C/c.1655T>C

p.L552P/p.L552P

1.2%

3

intermediate

c.1655T>C/c.-35C>A

p.L552P/abn. splicing

1.6%

4

juvenile

c.1645G>C/c.692+1G>C

p.G549R/abn. splicing

3.2%

5

juvenile

c.-45T>G/unknown

abn. splicing/unknown

5.2%