Skip to main content

Table 1 Genotype, muscle strength, pathological severity, calpain 3 expression and recently regenerating fibers in patients with limb-girdle muscular dystrophy type 2A and 2I, and Becker muscular dystrophy

From: Calpain 3 is important for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies

Patient

Age/

onset

Clinical diagnosis

Mutation

Effect of mutation

GMW

Biopsy origin

(force% or MRC)

CK

Calpain 3

WB

nMHC/Vimentin+

Pathological

severity

NF

WF

Nfibers

1M

30/n.d

LGMD2A

p.S48N/p.R748X

Missense/null

0

Q.f. (n.d.)

2400

≈ 10

0.0%

3

0.0%

0.0%

332

2M

22/11

LGMD2A

p.I178T homoz.

Missense

3

Q.f. (n.d.)

2100

≈ 0

12.9%

3

0.6%

0.4%

1236

3M

36/35

LGMD2A

p.T184M/c.259-260insT

Missense/null

2

Q.f. (3+)

3000

≈ 100

0.4%

3

0.0%

0.0%

468

4F

38/28

LGMD2A

p.T192I/p.Y537X

Missense/null

4

Q.f. (n.d.)

900

≈ 100

0.2%

3

0.0%

0.0%

2804

5M

61/n.d.

LGMD2A

c.643-663del homoz.

In-frame deletion

3

Q.f. (41%)

700

≈ 20

0.2%

3

0.4%

0.0%

497

6M

41/40

LGMD2A

c.643-663del homoz.

In-frame deletion

3

Q.f. (57%)

600

≈ 30

2.5%

3

0.3%

0.0%

667

7M

36/32

LGMD2A

p.R289W/p.I661X

Missense/null

3

Q.f. (84%)

5000

≈ 15

0.2%

3

0.7%

0.0%

601

8M

17/16

LGMD2A

p.V354G homoz.

Missense

4

Q.f. (4)

4600

n.d

17.8%

2

0.4%

0.0%

765

9M

30/30

LGMD2A

p.W373R homoz.

Missense

4

Q.f. (74%)

1400

≈ 10

11.3%

3

0.2%

0.2%

663

10M

38/22

LGMD2A

p.R437G homoz.

Missense

6

T.a. (25%)

600

≈ 5

4.6%

3

0.3%

0.4%

1142

11M

43/22

LGMD2A

p.G446S homoz.

Missense

9

Q.f. (36%)

700

≈ 15

2.9%

1

1.4%

0.7%

1171

12F

46/24

LGMD2A

p.R448H/c.1992+1G>T

Missense/null

5

T.b. (n.d.)

500

≈ 0

3.3%

2

0.1%

0.0%

2195

13F

23/15

LGMD2A

p.N449H homoz.

Missense

4

Q.f. (4+)

2700

≈ 5

4.8%

2

0.3%

0.0%

1451

14M

44/36

LGMD2A

p.R461C homoz.

Missense

3

Q.f. (49%)

4900

≈ 55

0.3%

3

0.2%

0.0%

1415

15F

49/47

LGMD2A

p.R490Q homoz.

Missense

5

T.b. (n.d.)

1000

≈ 100

0.5%

3

0.0%

0.0%

811

16M

16/16

LGMD2A

p.R490Q homoz.

Missense

0

Q.f. (n.d.)

n.d.

≈ 100

4.7%

3

0.0%

0.0%

2402

17M

38/19

LGMD2A

p.R748Q homoz.

Missense

4

T.b. (4)

n.d.

≈ 0

4.6%

2

0.1%

0.0%

2202

18F

20/12

LGMD2A

p.I777T/c.550delA

Missense/null

6

B.b. (3)

2300

≈ 0

17.6%

2

0.2%

0.0%

873

19F

46/22

LGMD2A

p.A798E homoz.

Missense

6

Q.f. (90%)

1600

≈ 30

2.8%

3

0.6%

0.0%

360

20M

38/9

LGMD2A

c,1800+2T>C homoz.

Null

9

T.a. (14%)

200

0

0.3%

1

1.9%

3.1%

483

21M

68/29

LGMD2A

c.380-13T>A homoz.

Null

9

Q.f. (0%)

200

0

0.8%

1

2.7%

7.8%

257

22M

38/15

LGMD2A

p.E285X homoz.

Null

9

T.a. (7%)

n.d.

0

0.0%

1

1.7%

6.0%

351

23-27

27 ± 12/6 ± 4

LGMD2I

Various

Missense

9.0 ± 0.0

T.a. 6 ± 6%

700 ± 700

55 ± 20

22.7 ± 12.7%

1.0 ± 0.0

1.7 ± 1.5%

3.4 ± 3.1%

781 ± 372

28-32

34 ± 12/25 ± 11

BMD

Various

Missense

8.6 ± 0.5

T.a. 9 ± 9%

4700 ± 7300

95 ± 5

20.3. ± 13.8%

1.8 ± 0.7

0.8 ± 0.7%

0.7 ± 0.9%

499 ± 402

  1. M/F = male/female; Age = age when biopsy was taken; n.d. = not determined; LGMD2A = limb-girdle muscular dystrophy type 2A; LGMD2I = limb-girdle muscular dystrophy type 2I; BMD = Becker muscular dystrophy; Mutations in introns are marked in italic; GMW = modified Gardner-Medwin-Walton scale; Q.f. = Quadriceps femoris; T.b. = Triceps brachii; B.b. = Biceps brachii; T.a. = Tibialis anterior; CK = creatine kinase; WB = presence of calpain 3 (94 + 60 bands) in western blot in percent of normal; nMHC/Vimentin + = Regenerating fibers expressing neonatal myosin heavy chain and vimentin; Pathological severity: (3 = mild), (2 = moderate) and (1 = severe); NF = Necrotic fibers; WF = Whorled fibers; Nfibers = number of fibers analyzed in each section
Back to article page

BMC Musculoskeletal Disorders

ISSN: 1471-2474

Contact us