Table 1 Clinical and molecular data of patients with LGMDs

LMNA-related Muscular dystrophy/ LGMD1B(LMNA, NM_170707.3)

1

37/M

5

Ambulant neck flexors (+) proximal (+);distal (+)

1099

Cardiac arrhythmia LV dysfunction

–

Hetero c.746G > A

LGMD-R1/ LGMD2A (CAPN3, NM_000070.2)

2

25/M

16

Ambulant neck flexors (−) proximal (+);distal (+)

6598

Normal

Normal

Homo c.1621C > T

3

48/M

28

Ambulant neck flexors (−) proximal (+);distal (−)

2178

–

–

Comp hetero c.433C > T c.1621C > T

4(P1)

43/M

35

Ambulant neck flexors (−) proximal (+);distal (−)

3269

Tachycardia LV dysfunction

Normal

Comp hetero c.2050+ 1G > A c.2120A > G

4(P2)

40/F

28

Ambulant neck flexors (−) proximal (+);distal (−)

1638

–

–

Comp hetero c.2050+ 1G > A c.2120A > G

4(P3)

39/M

30

Ambulant neck flexors (+) proximal (+);distal (−)

1400

Normal

Normal

Comp hetero c.2050+ 1G > A c.2120A > G

5

34/M

12

Walk aid dependency neck flexors (+) proximal (+);distal (+)

564

Normal

–

Comp hetero c.2305C > T c.1343G > A

6

17/M

17

Ambulant neck flexors (−) proximal:upper limbs (−) lower limbs (+) distal (−)

7250

Normal

Normal

Comp hetero c.1720 T > G c.2306G > C

7(P1)

41/M

20

Ambulant neck flexors (+) proximal (+);distal (−)

446

Sinus tachycardia LV dysfunction

–

Homo c.2263G > A

7(P2)

38/F

13

Wheel−chair dependency neck flexors (+) proximal (+) distal (+)

1357

–

–

Homo c.2263G > A

8

27/M

24

Ambulant neck flexors (−) proximal (+) distal lower limbs (+)

5241

Normal

–

Comp hetero c.2120A > G c.1451 T > C

9

24/F

19

Ambulant neck flexors (−) proximal (+);distal (−)

3501

Normal

Normal

Comphetero c.1855C > T c.77C > G

10

15/F

12

Ambulant neck flexors (+) proximal (+);distal (−)

1837

Normal

Normal

Homoc.2306G > C

11

30/F

22

Ambulant neck flexors (−) proximal (+);distal (−)

–

–

–

Homoc.1817C > T

12

47/M

27

Ambulant neck flexors (−) proximal (+);distal (−)

2123

–

–

Comp hetero c.2306G > C c.2120A > G

13

20/M

10

Ambulant neck flexors (+) proximal (+);distal (−)

2144

Normal

Normal

Comp hetero c.1621C > T c.1693C > T

LGMD-R2/ dysferlinopathy (DYSF, NM_003494.3)

14(P1)

51/F

21

Wheel−chair dependency neck flexors (+) proximal (+);distal (+)

1142

Sinus tachycardia

Respiratory insufficiency

Homo c.863A > T

14(P2)

60/F

32

Wheel−chair dependency neck flexors (+) proximal (+);distal (+)

1579

–

–

Homo c.863A > T

15

20/M

19

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal (−)

31,740

Normal

Normal

Comp hetero c.6217A > G c.5350C > T

16

35/M

30

Ambulant neck flexors (+) proximal (+);distal (−)

5283

Normal

–

Comp hetero c.927C > G c.4700delT

17

54/M

48

Ambulant neck flexors(−) proximal (+); distal (−)

3170

LV dysfunction

Normal

Comp hetero c.965 T > C c.1667 T > C

18

24/M

18

Ambulant neck flexors (+) proximal (+) distal lower limbs (+)

10,530

Normal

–

Homo c.1667 T > C

19(P1)

21/F

20

Ambulant neck flexors (+) proximal (+);distal (−)

6551

Normal

Normal

Comp hetero c.3102C > G c.5836C > T

19(P2)

17/M

13

Ambulant neck flexors (−) proximal (+) distal lower limbs (+)

4474

Left ventricular high voltage

–

Comp hetero c.3102C > G c.5836C > T

20

29/F

26

Ambulant neck flexors (+) proximal (+);distal (−)

19,611

Normal

Normal

Comphetero c.89-2A > G c.2810+ 1G > A

21(P1)

33/F

23

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+);distal (−)

5407

–

–

Homo c.799_800delTT

21(P2)

34/M

Not yet

Ambulant neck flexors (−) proximal (−);distal (−)

9045

Normal

Normal

Homo c.799_800delTT

22

33/F

30

Ambulant neck flexors (−) proximal: upper limbs (+) lower limbs (−);distal (−)

3586

Normal

Normal

Comp hetero c.937+ 1G > A c.3113G > A

23

37/M

17

Walk aid dependency neck flexors (+) proximal (+);distal (+)

1808

Normal

–

Homo c.5903G > A

24

27/M

26

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+);distal (−)

4358

Normal

–

Comp hetero c.5694dupT c.937+ 1G > A

25

29/F

25

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+);distal (−)

12,140

Normal

Normal

Comp hetero c.4325delG c.5947-1G > A

26

40/M

28

Ambulant neck flexors (−) proximal:upper limbs (−) lower limbs (+) distal lower limbs (+)

3284

Normal

Respiratory insufficiency

Comp hetero c.863A > T 55 exon deletion

27

23/M

20

Ambulant neck flexors(−) proximal(−) distal lower limbs(+)

9255

Normal

Normal

Comp hetero c.712A > T c.4200delC

28

33/F

18

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal lower limbs (+)

2987

Normal

Normal

Homo c.1644delA

LGMD-R7/ LGMD2G (TCAP, NM_003673.3)

29

32/M

22

Ambulant neck flexors (+) proximal (+);distal (−)

974

–

Normal

Homo c.26_33dupAGGTGTCG

30

25/F

22

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal lower limbs (+)

678

Normal

Normal

Homo c.26_33dupAGGTGTCG

31

33/F

15

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal lower limbs (+)

872

Normal

Normal

Homo c.26_33dupAGGTGTCG

32

33/M

16

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal lower limbs (+)

2361

–

–

Homo c.26_33dupAGGTGTCG

33

48/M

17

Ambulant neck flexors (+) proximal (+) distal lower limbs (+)

408

Normal

–

Homo c.110+ 5G > A

34(P1)

41/F

31

Ambulant neck flexors (+) proximal (+) distal lower limbs (+)

1357

Normal

Normal

Homo c.26_33dupAGGTGTCG

34(P2)

37/F

35

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+) distal lower limbs (+)

823

Normal

–

Homo c.26_33dupAGGTGTCG

LGMD-R9/ LGMD2I (FKRP, NM_024301.4)

35

29/F

10

Walk aid dependency neck flexors (+) proximal (+);distal (+)

1325

Cardiomyopathy

Respiratory insufficiency

Comp hetero c.948delC c.545A > G

36

8/F

6

Ambulant neck flexors (+) proximal (+);distal (−)

6300

Normal

Normal

Comp hetero c.545A > G c.206_208delCCT

LGMD-R10/ LGMD2J (TTN, NM_003319.4)

37(P1)

23/M

8

Ambulant neck flexors (−) proximal: upper limbs (−) lower limbs (+);distal (−)

1025

Normal

–

Homo c.7509 T > C

37(P2)

25/F

11

Ambulant neck flexors (−) proximal (+) distal lower limbs (+)

875

Normal

–

Homo c.7509 T > C

LGMD-R11/ LGMD2K (POMT1, NM_007171.3)

38(P1)

15/M

5

Ambulant neck flexors (−) proximal (+);distal (−)

1895

Early repolarization syndrome

–

Comp hetero c.2210_2221del c.2164G > A

38(P2)

25/F

10

Ambulant neck flexors (−) proximal (+);distal (−)

1038

Normal

–

Comp hetero c.2210_2221del c.2164G > A

LGMD-R14/ LGMD2N (POMT2, NM_013382.5)

39

10/F

4

Ambulant neck flexors (+) proximal (+);distal (−)

12,671

Normal

–

Comp hetero c.511C > T c.365G > T

LGMD-R18/ LGMD2S (TRAPPC11, NM_021942.5)

40

33/F

19

Walk aid dependency neck flexors (+) proximal (+);distal (+)

420

Normal

Respiratory insufficiency

Homo c.2938G > A

LGMD-R20/ LGMD2U (ISPD, NM_001101426.3)

41

24/M

4

Wheel−chair dependency neck flexors (+) proximal (+);distal (+)

2807

Sinus tachycardia

Normal

Homo c.1114_1116del