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 |