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Table 1 Summary data for study participants

From: Longitudinal functional and imaging outcome measures in FKRP limb-girdle muscular dystrophy

Participant Sex Age (years) Body mass index Age at symptom onset Allele 1 Pathogenic variant Allele 2 Pathogenic variant Creatine kinase (U/L)
1 F 38 21.2 29 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 2423
2 F 53 21.0 22 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 488
3 M 51 27.9 38 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 5668
4 F 38 21.1 28 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 951
5 F 65 26.6 35 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP):c.1073C > T (p.Pro358Leu) 202
6 F 33 20.3 22 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 1506
7 M 41 16.1 25 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP):c.1433 T > C (p.Ile478Thr) 2832
8 F 26 27.0 20 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 4579
9 F 23 15.0 15 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 2399
10 M 30 22.3 26 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 981
11 M 67 24.5 40 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP):c.586G > C (p.Gly196Arg) 226
12 F 23 23.0 17 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 1726
13 M 34 21.5 20 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 3983
14 F 41 30.3 21 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 3072
15 F 47 27.1 16 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 222
16 M 32 21.7 14 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP):c.1087G > T (p.Val363Leu) 1716
17 F 44 20.2 15 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 1099
18 F 29 24.8 18 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 1428
19 M 19 27.6 5 NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) NM_024301.5(FKRP): c.826C > A (p.Leu276Ile) 4803