Table 1. Age and dystrophin quantity by DMD mutation.
Mutation group | Individual mutation | Age (years) |
Dystrophin (% of control) |
||||
---|---|---|---|---|---|---|---|
n | Mean ± SD | median (range) | n | Mean ± SD | median (range) | ||
“del 45-x” | del 45–47 | 10 | 38.1 ± 13.0 | 40.1 (10.7~55.9) | 5 | 39 ± 27 | 28 (10~75) |
del 45–48 | 14 | 38.5 ± 17.2 | 38.0 (9.2~69.6) | 12 | 57 ± 28 | 49 (16~100) | |
del 45–49 | 2 | 32.1 ± 17.9 | 32.1 (19.4~44.7) | 1 | 28 ± NA | 28 (28~28) | |
del 45–55 | 2 | 29.3 ± 31.7 | 29.3 (6.9~51.6) | 2 | 90 ± 14 | 90 (80~100) | |
“del 45-x” total | 28 | 37.2 ± 16.0 | 38.3 (6.9~69.6) | 20 | 54 ± 29 | 49 (10~100) | |
“del 48” | del 48 | 10 | 24.2 ± 19.5 | 14.5 (6.1~65.8) | 7 | 67 ± 21 | 58 (40~100) |
“del x-51” | del 34–51 | 1 | 50.7 ± NA | NA | 1 | 70 ± NA | NA |
del 45–51 | 5 | 16.8 ± 6.8 | 16.2 (8.6~25.7) | 4 | 90 ± 12.5 | 93 (74~100) | |
del 48–51 | 2 | 37.8 ± 7.2 | 37.8 (32.7~42.9) | 2 | 64 ± 24 | 64 (47~81) | |
del 50–51 | 2 | 14.3 ± 2.1 | 14.3 (12.9~15.8) | 2 | 82 ± 18 | 82 (69~95) | |
“del x-51” total | 10 | 23.9 ± 14.1 | 18.7 (8.6~50.7) | 9 | 80 ± 17 | 81 (47~100) | |
“other” | del 3–9 | 1 | 13.1 ± NA | NA | 1 | 100 ± NA | NA |
rod domain del* | 4 | 33.7 ± 14.2 | 29 (22.6~54.2) | 4 | 100 ± 0 | 100 (100~100) | |
del 48–49 | 3 | 50.2 ± 13.1 | 54.7 (35.4~60.3) | 3 | 37 ± 38 | 30 (3~78) | |
duplications | 2 | 39.9 ± 6.9 | 39.9 (35~44.7) | 2 | 30 ± 35 | 30 (5~55) | |
nonsense | 2 | 28.6 ± ± 4.8 | 28.6 (25.2~32) | 2 | 23 ± 8 | 23 (17~29) | |
missense | 1 | 37.6 ± NA | NA | 1 | 13 ± NA | NA | |
small deletions | 6 | 35.4 ± ± 18.1 | 34.9 (17.4~54.1) | 1 | 39 ± NA | 39 (39~39) | |
synonym | 2 | 40.7 ± 8 | 40.7 (35~46.3) | 2 | 23 ± 4 | 23 (20~26) | |
“other” total | 21 | 36.5 ± 14.2 | 35.0 (16.1~50.3) | 16 | 51 ± 39 | 34.5 (3~100) | |
Total | 69 | 33.2 ± 16.5 | 34.9 (6.1~69.6) | 52 | 59 ± 31 | 57 (3~100) |
SD: standard deviation. del: deletion.
*Including deletions of exons 10–25, 10–29, del 11–30.