Table 3 Mutations and presence of LGE and LVEF

1

42

del. exon 12–29

+

inf, lat

end, mid

3

54

2

40

del. 48–50

-

-

-

0

58

3

38

point mutation intron 40

-

-

-

0

72

4

40

exon 48 (somatic mosaic)

-

-

-

0

70

5

24

n. k.

+

inf, lat

mid

6

42

6

26

dupl. exon 3–34

+

inf, lat

mid

2

58

7

62

n. k.

+

inf, lat

mid

4

64

8

38

nonsense mutation exon 12

+

lat

mid

1

65

9

55

n. k.

+

ant, lat

mid

6

57

10

39

n. k.

+

lat

epi

2

53

11

41

n. k.

-

-

-

0

61

12

29

dupl. exon 1–2 and 39–34

-

-

-

0

66

13

59

dupl. exon 1–2 and 39–34

-

-

-

0

74

14

22

dupl. exon 1–2 and 39–34

-

-

-

0

59

15

40

dupl. exon 1–2 and 39–34

-

-

-

0

61

16

34

del. exon 23

-

-

-

0

57

17

41

point mutation exon 24

+

lat

mid, epi

3

61

18

29

del. exon 44

-

-

-

0

66

19

53

del. exon 1–11

-

-

-

0

64

20

47

del. exon 43

+

ant, lat

mid

2

56