Table 2 Treatment method and mutation site of IGS syndrome patients with AMN gene mutants

1

Female

18 months

intramuscular injection

c.208–2 A > G

[1]

2

Female

24

months

intramuscular injection

c.513 + 5G > A

c.1006 + 34_1007-31del

[2]

3

Female

36

months

intramuscular injection

c.513 + 5G > A

c.1006 + 34_1007-31del

[2]

4

Female

11 months

intramuscular injection

c.513 + 5G > A

c.1006 + 34_1007-31del

[3]

5

Male

8 months

Oral

c.208–2 A > G

[8]

6

Female

4 years

Oral

c.208–2 A > G

[8]

7

Female

36

months

intramuscular injection

c.1225_1226del

[9]

8

Female

18 months

intramuscular injection

c.1225_1226del

[9]

9

Male

12

months

intramuscular injection

c.1225_1226del

[9]

10

Male

39 months

intramuscular injection

c.663G > A

[10]

11

Male

24

months

-

c.208–2 A > G

[11]

12

Female

24

months

-

c.742 C > T

[11]

13

Female

25 months

intramuscular injection

c.208–2 A > G

[12]

14

Male

15 months

intramuscular injection

c.280–2 A > G

[13]

15

Male

8 months

intramuscular injection

c.280–2 A > G

[13]

16

Female

11 months

intramuscular injection

c.280–2 A > G

[13]

17

Male

8years and 8 months

intramuscular injection

c. 43 + 5G > A

c.C717G: p.Cys239Tyr

[14]

18

Male

6 years and 2 months

intramuscular injection

c. 43 + 5G > A

c.C717G: p.Cys239Tyr

[14]

19

Female

4 years and 7 months

intramuscular injection

c.742 C > T(p.Q248X)

[15]

20

Female

24

months

intramuscular injection

c.742 C > T(p.Q248X)

[15]

21

Female

6 years and 8 months

intramuscular injection

c.742 C > T(p.Q248X)

[16]

22

Male

16 years and 5 months

intramuscular injection

c.742 C > T(p.Q248X)

c.761G > A(p.G254E)

[17]

23

Male

10 years

intramuscular injection

c.527_530del

c. 651 + 1G > A

[18]

24

Male

3 years and 11 months

intramuscular injection

c.742 C > T(p.Q248X)

[19]