Table 1 Patients included in the study, clinical diagnosis and mutations

1

1

MD

c.1219A>G; p.K407E*

7

2

2

MD

c.2396C>T; p.P799L

15

3

2

MD

c.2396C>T; p.P799L

15

4

3

MD

c.2396C>T; p.P799L

15

5

4

MD/SMDK

c.1781G>A; p.R594H

11

6

4

MD/SMDK

c.1781G>A; p.R594H

11

7

4

MD/SMDK

c.1781G>A; p.R594H

11

8

5

MD

c.2395C>T; p.P799S

15

9

6

MD

c.1780C>A; p.R594S*

11

10

7

MD

c.1781G>A; p.R594H

11

11

8

MD

c.1781G>A; p.R594H

11

12

9

MD

c.2396C>T; p.P799L

15

13

10

MD

c.2396C>T; p.P799L

15

14

11

MD

c.717G>C; p.Q239H*

5

15

12

SMDK

c.1781G>A; p.R594H

11

16

13

SMDK

c.1781G>A; p.R594H

11

17

14

SMDK

c.1566_68dup; p.L523dup*

9

18

15

SMDK

c.1851C>A; p.F617L

12

19

16

Brachyolmia

c.1772A>G; p.Y591C*

11

20

16

SMDK

c.1772A>G; p.Y591C*

11

21

16

SMDK

c.1772A>G; p.Y591C*

11

22

17

SMDK

c.1781G>A; p.R594H

11

23

18

MD

negative

-

24

19

SMDK

negative

-

25

20

Brachyolmia

negative

-

26

21

Brachyolmia

negative

-