Table 1 Clinical and biochemical features of LGMD patients

Muscular distrophy

LGMD2J/LGMDR10

LGMD1I/LGMDD4

LGMD2D/LGMDR3

LGMD1I/LGMDD4

LGMD2J/LGMDR10

LGMD1I/LGMDD4

Mutated gene

NM_001267550.2(TTN)

NM_000070.3(CAPN3)

NM_000023.4(SGCA)

NM_000070.3(CAPN3)

NM_001267550.2(TTN)

NM_000070.3(CAPN3)

Sex

F

M

M

F

M

F

Early/late onset, age

Late, 28

Early, 18

Early, 9

Early, 9

Early, 7

Early,7

Age last evaluation

51

40

24

18

11

20

Limb weakness^a

3

3

1

1

1

2

WCB^b, age

No

Yes, 18

Yes, 23

No

No

No

Functional System Score (FSS)^c

1

3

2

1

2

2

Cardiopathy

No

No

Yes

No

No

No

Non-invasive ventilation required

No

No

No

No

No

No

Muscle biopsy

Yes

Yes

Yes

No

No

No

Calcium (mg/dL)

10

9.2

9.5

9.7

9.5

9.8

iP (mg/dL)

4.2

4.2

3.4

3.9

43

3.8

Vit D3 (ng/mL)

20.5

10.2

17.9

0.4

47.4

17.1

PINP (ng/mL)

–

33.2

40.2

36.3

460

70.2

ALP (IU/L)

–

55

68

56

321

56

PTH (pg/mL)

65.4

48

41.9

30

25

27.9

PG (ng/mL)

0.15

0.26

0.47

0.4

0.21

0.84

FSH (mU/mL)

133

2

2.4

0.1

2.1

4.7

LH (mU/mL)

102

3

2.8

0.1

3.2

18.8

CK (IU/L)

877

2798

1922

9827

124

5733