Table 1 Clinical, enzymatic and molecular information on 42 German patients with Pompe disease

classic infantile

1

postnatal

respiratory insufficiency

-

-

1.0^$

c.1799G>A

c.2481+102_2646+31del

6

f

2

prenatal

cardiomegaly

-

-

0.3^$

c.1637-2A>G

c.1637-2A>G

2

m

3

3/12

adynamia in breathing and sucking

-

-

1.2^$

c.[2740dup; 2742dup]

c.[2740dup; 2742dup]

4/12

f

childhood

4

1

no standing aged 1 year

3

48/50

0.01^§

c.-32-13T > G

c.1051delG

9

m

5

1.5

no free walking aged 1.5 years

8 (walking support aged 15 years, wheelchair aged 17 years)

?

0.2^$

c.2297A>G

c.1561G>A

29

f

6

1.5

no free walking aged 1.5 years

3

32/27

2.0^$

c.1370C>T

c.1128_1129delinsC

4

m

juvenile

7

1/12

adynamia in breathing and swallowing

0

75/78

2.1^$

c.-32-13T > G

c.2481+102_2646+31del

14

m

8

0

muscular hypotonia, adynamia in swallowing

7 (wheelchair aged 19 years)

32

^#

c.-32-13T > G

c.525delT

21

f

9

1

no standing aged 1 year

2

72/54

0.8^$

c.-32-13T > G

c.2481+102_2646+31del

30

m

10^γ

1

no crawling aged 1 year

0

71/66

0.5^$

c.-32-13T > G

c.525delT

15

m

11

1

muscle weakness, adynamia in swallowing

3

80/74

1.2^$

c.-32-13T > G

c.1548G>A

20

f

12

2

muscle weakness

0

89/86

0.5^$

c.-32-13T > G

c.118C>T

20

m

13

2

muscle weakness

2

?

0.02^§

c.-32-13T > G

c.2214G>A

2

f

14

6.5

muscle weakness

0

91/94

0.03^§

c.-32-13T > G

c.1561G>A

5

m

15

3

developmental retardation, abnormal gait

2

28/20

0.02^§

c.-32-13T > G

c.2738C>G

20

m

16

13

muscle weakness

0

82/75

0.9^$

c.-32-13T > G

c.-32-13T > G

13

m

17

9

limb girdle weakness

7 (wheelchair aged 33 years)

56/42

2.8^$

c.1076-22T > G

[c.1426C>A; c.1437+1G>A]

34

f

18^β

12

limb girdle weakness

0

98/90

0.3^$

c.-32-13T > G

c.307T > G

12

f

19

12

limb girdle weakness

0

108/105

1.0^$

c.-32-13T > G

c.1143delC

25

m

20

13

muscle weakness

3

50/46

0.3^$

c.2014C>T

c.1703A>T

25

f

21

15

muscle weakness

0

65/60

1.1^$

c.-32-13T > G

c.1441T>C

17

m

22^β

16

muscle weakness

3

69/58

1.2^$

c.-32-13T > G

c.307T > G

19

f

adult

23

12

weakness of trunk muscles, scoliosis

4

61/36

0.04^§

c.-32-13T > G

c.1799G>A

48

m

24

18

muscle weakness

3

50/25

1.0^$

c.-32-13T > G

c.1143delC

46

m

25

18

muscle weakness

2

53/30

1.2^$

c.-32-13T > G

c.701C>A

52

m

26

20

limb girdle weakness

3

71/46

3.9^$

c.-32-13T > G

c.877G>A

44

f

27^α

23

limb girdle weakness

4 (walking support aged 33 years)

76/68

0.03^§

c.-32-13T > G

c.1291_1299delCTGCACCAG

35

m

28

27

limb girdle weakness

6 (walking support aged 51 years)

33/26

4.7^$

c.-32-13T > G

c.1802C>T

53

m

29^α

29

limb girdle weakness

0

101/81

0.09^§

c.-32-13T > G

c.1291_1299delCTGCACCAG

42

f

30

30

limb girdle weakness

3

98/90

1.2^$

c.-32-13T > G

c.525delT

47

f

31

30

limb girdle weakness

3

66/25

1.8^$

c.-32-13T > G

c.2608C>T

46

f

32

30

backache

1

?

0.8^$

c.-32-13T > G

c.1005_1006insGG

70

m

33

35

limb girdle weakness

3

43/19

4.1^$

c.-32-13T > G

c.1564C>G

45

m

34

35

limb and shoulder girdle weakness

1

124/105

4.9^$

c.-32-13T > G

c.307T > G

37

f

35

38

limb girdle weakness

6 (walking support aged 57 years)

33/18

^#

c.-32-13T > G

c.2214G>A

63

f

36

40

limb girdle weakness

6 (walking support aged 59 years)

50/37

1.1^$

c.-32-13T > G

c.2205_2206insT

70

f

37

47

limb girdle myalgia

3

120/119

2.8^$

c.-32-13T > G

c.2322_2323insGGTGAGTCTGCAAACGGGGAGT

59

f

38

48

limb girdle weakness

6 (walking support aged 62 years)

87/61

0.7^$

c.-32-13T > G

c.877G>A

62

f

39

56

limb girdle weakness, backache

2

120/114

1.7^$

c.-32-13T > G

c.2237G>A

69

f

40

?

?

?

?

1.5^$

c.-32-13T > G

c.1687_1688insCACC

65

f

asymptomatic

41^γ

-

asymptomatic

0

95/98

0.4^$

c.-32-13T > G

c.525delT

20

f

excluded from clinical analysis

42

-

-

-

-

^#

c.-32-13T > G

c.2481+102_2646+31del

1

m