Table 1 Clinical and molecular characteristics of patients carrying point mutations in DMD gene

I

BMD

Insertion

c.10453insC

p.Leu3485ProfsX6

74

[33]

7

HyperCKemia

12922

7

No (9)

II

BMD

Nonsense

c.9G>A

p.Trp3X

1

TGA

[10]

3

HyperCKemia

3300

3

No (7)

III

BMD

Nonsense

c.10783C>T

p.Gln3595X

75

TAG

[35]

nd

nd

nd

nd

Yes (22)

IV

BMD

Missense

c.352T>A

p.Trp118Arg

5

Novel

45

Motor impairment

nd

nd

No (49)

V

BMD

Splicing

c.1705-8T>C

cDNA analysis NOT done

IVS14

Novel

2

hyperCKemia

1604

2

No (5)

VI

BMD

Splicing

c.6118-3C>A

cDNA analysis NOT done

IVS42

Novel

49

Motor impairment

1400

46

No (68)

VII

DMD

Insertion

c.151insC

p.Leu51ProfsX37

3

Novel

nd

nd

nd

nd

nd

VIII

DMD

Duplication

c.3009dupTG

p.Lys1004X

23

Novel

nd

nd

nd

nd

nd

IX

DMD

Duplication

c.5773_5794dup

p.Gln1932ArgfsX6

41

Novel

1

HyperCKemia

2956

17

Yes (12)

X.1

DMD

Insertion

c.7548insGGCAACA

p.Met2517GlyfsX49

52

Novel

nd

nd

nd

nd

nd

X.2

DMD

Insertion

c.7548insGGCAACA

p.Met2517GlyfsX49

52

Novel

nd

nd

nd

nd

nd

XI

DMD

Deletion

c.6353delA

p.Gln2118ArgfsX3

44

Novel

2

HyperCKemia

16159

2

No (13)

XII.1

DMD

Deletion

c.6986delA

p.Lys2329SerfsX8

48

[37]

1

HyperCKemia

11493

1

No (1)

XII.2

DMD

Deletion

c.6986delA

p.Lys2329SerfsX8

48

[37]

3

Motor impairment

32359

3

No (4)

XIII

DMD

Deletion

c.9204_9207delCAAA

p.Asn3068LysfsX19

62

Leiden database

4

HyperCKemia

7671

6

Yes (8)

XIV

DMD

Deletion

c.10386delT

p.Asn3462LysfsX3

73

Novel

nd

nd

4760

11

Yes (12)

XV.1

DMD

Del/ins

c.1603delGTAinsCT

p.Val535LeufsX47

14

Novel

nd

nd

12000

9

Yes (13)

XV.2

DMD

Del/ins

c.1603delGTAinsCT

p.Val535LeufsX47

14

Novel

nd

nd

2061

13

Yes (12)

XV.3

DMD

Del/ins

c.1603delGTAinsCT

p.Val535LeufsX47

14

Novel

nd

nd

5357

9

Yes (10)

XVI

DMD

Nonsense

c.568C>T

p.Gln190X

7

TAG

[10]

3

Motor impairment

12800

6

No (6)

XVII

DMD

Nonsense

c.2956C>T

p.Gln986X

23

TAA

[35]

3

Motor impairment

10430

3

Yes (11)

XVIII

DMD

Nonsense

c.3580C>T

p.Gln1194X

26

TAG

[10]

3

HyperCKemia

13580

3

No (7)

XIX

DMD

Nonsense

c.4117C>T

p.Gln1373X

30

TAG

Leiden database

2

HyperCKemia

7246

5

No (6)

XX

DMD

Nonsense

c.4996C>T

p.Arg1666X

35

TGA

38]

1

Delayed motor milestones

8000

1

No (7)

XXI

DMD

Nonsense

c.5209C>T

p.Arg1737X

37

TAA

Novel

2

HyperCKemia

nd

nd

No (2)

XXII

DMD

Nonsense

c.5530C>T

p.Arg1844X

39

TGA

[38]

3

Motor impairment

19000

5

No (6)

XXIII.1

DMD

Nonsense

c.5563C>T

p.Gln1855X

39

TAG

[35]

3

HyperCKemia

19452

4

No (7)

XXIII.2

DMD

Nonsense

c.5563C>T

p.Gln1855X

39

TAG

[35]

2

No symptoms

nd

No (5)

XXIV

DMD

Nonsense

c.6277A>T

p.Lys2093X

43

TAG

Novel

1

Delayed motor milestones

17000

1

No (5)

XXV.1

DMD

Nonsense

c.6943G>T

p.Glu2315X

48

TAA

[39]

3

Motor impairment

1918

12

Yes (8)

XXV.2

DMD

Nonsense

c.6943G>T

p.Glu2315X

48

TAA

[39]

3

Motor impairment

7583

9

No (8)

XXVI

DMD

Nonsense

c.8038C>T

p.Arg2680X

55

TGA

[40]

4

Delayed speech

3211

11

Yes (9)

XXVII

DMD

Nonsense

c.8608C>T

p.Arg2870X

58

TGA

Leiden database

1

Delayed motor milestones

12954

9

No (10)

XXVIII

DMD

Nonsense

c.8944C>T

p.Arg2982X

60

TGA

[38]

4

Delayed motor milestones

8617

7

No (8)

XXIX

DMD

Nonsense

c.9100C>T

p.Arg3034X

61

TGA

[10]

6

Delayed motor milestones

15000

1

No (8)

XXX

DMD

Nonsense

c.10108C>T

p.Arg3370X

70

TGA

[40]

4

Delayed motor milestones

8891

1

No (9)

XXXI

DMD

Nonsense

c.10108 C>T

p.Arg3370X

70

TGA

[40]

4

Delayed motor milestones

2312

10

Yes (10)

XXXII

DMD

Nonsense

c.10141C>T

p.Arg3381X

70

TGA

[40]

nd

nd

nd

nd

No (4)

XXXIII

DMD

Nonsense

c.10219G>T

p.Glu3407X

70

TAA

Novel

4

HyperCKemia

9200

4

No (11)

XXXIV

DMD

Nonsense

c.10651C>T

p.Gln3551X

75

TAG

Novel

1

Delayed motor milestones

13672

2

nd

XXXV

DMD

Splicing

c.9560A>G

p.Asp3187Gly

65

[39]

4

HyperCKemia

17634

5

No (6)

XXXVI

DMD

Splicing

c.358-2A>T

cDNA analysis NOT done

IVS5

[10]

4

nd

3904

10

Yes (8)

XXXVII

DMD

Splicing

c.2949+1G>T

cDNA analysis NOT done

IVS22

[12]

nd

Delayed motor milestones

11834

1

nd

XXXVIII

DMD

Splicing

c.6118-1G>A

cDNA analysis NOT done

IVS42

Leiden database

nd

nd

nd

nd

XXXIX

DMD

Splicing

c.8668+3A>T

cDNA analysis NOT done

IVS58

Novel

3

HyperCKemia

11815

3

Yes (10)

XL

DMD

Splicing

c.9563_9564ins53

p.Thr3188=fsX7

IVS65

Novel

4

HyperCKemia

16000

4

No (6)

XLI

DMD

Splicing

c.10086+1G>A

cDNA analysis NOT done

IVS69

[36]

1

Delayed motor milestones

7365

1

Yes (9)