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Table 2 The novel mutations diagnosed by NGS

From: Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center

Familiy number

Age of proband (years old)

CK value (U/L)

ExonID

Base change

Effect

Mutation type

Carrier status of mother

13

8

8616

Exon6

c.412A > T

p.Lys138*

Nonsense

Yes

16

3

12,817

Exon23

c.2962delT

p.Ser988Leufs*16

Small deletions

Yes

17

1

9880

Exon75

c.10705A > T

p.Lys3569*

Nonsense

Yes

18

10

19,964

Exon47

c.6850dupA

p.Ser2284Lysfs*7

Small insertions

Yes

19

11

4880

Exon36

c.5139dupA

p.E1714Rfs*5

Small insertions

Yes

20

5

6179

Exon43

c.6201_6203delGCCinsCCCA

p.Val2069Cysfs*14

Small deletions and insertions

Yes

  1. CK Creatine kinase
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BMC Medical Genetics

ISSN: 1471-2350

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