Table 1 Data of DMD patients
Patient | Age at muscle biopsy (years) | Muscle | DMD mutation | CK levels | Steroid treatment at muscle biopsy |
|---|---|---|---|---|---|
P 1 | 1 | Q | del 51–54 | 49,450 | No |
P 2 | 1 | Q | del 48–52 | 20,538 | No |
P 3 | 2 | Q | del 48–54 | 11,681 | No |
P 4 | 2 | Q | del 20–44 | 28,206 | No |
P 5 | 3 | Q | ex.68; c.9953_9954del, p.Glu3318ValfsTer15 | 18,767 | No |
P 6 | 3 | Q | dup 50 | 14,768 | No |
P 7 | 4 | Q | del 44 | 28,830 | No |
P 8 | 4 | D | del 45–50 | 12,000 | No |
P 9 | 5 | D | del 48–50 | nr | No |
P 10 | 5 | D | dup 12–16 | 15,900 | No |
P 11 | 5 | Q | del 49–50 | 10,386 | No |
P 12 | 5 | Q | del 46–47 | 21,458 | No |
P 13 | 6 | Q | del 12–16 | 26,430 | NO |
P 14 | 6 | Q | del 44 | 29,660 | NO |
P 15 | 7 | Q | del 10–43 | 14,286 | No |
P 16 | 8 | D | ex.25; c.3427C > 7, p.Gln1143* | 9400 | No |
P 17 | 8 | D | dup2 | 7395 | No |
P 18 | 8 | Q | del 49–52 | 7392 | No |
P 19 | 9 | Q | ex.15; c.1753del, p.Ile585PhefsTer22 | 15,196 | No |
P 20 | 15 | Do | del 18–34 | nr | Nr |
P 21 | 15 | Do | del 10–11 | nr | Nr |
P 22 | 17 | Do | dup 10–17 | nr | Nr |
P 23 | 17 | Do | dup 49 | nr | Nr |
P 24 | 18 | Do | ex.35; c.4996C > T, p.(Arg1666Ter) | nr | Nr |