Skip to main content
. 2016 Sep 1;6:32439. doi: 10.1038/srep32439

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.