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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