Table 1.
Patients characteristics for the three cohorts.
| Cohort 1 Cross-sectional analysis Right TA |
Cohort 2 Longitudinal analysis Right TA |
Cohort 3 Inter-muscular analysis Right TA vs Right VL |
|
|---|---|---|---|
| Number of participants | 37 | 9 | 8 |
| Age, years: median (range) | 38 (1–66) |
2011 study: 32 (21–48) 2014 study: 36 (25–52) |
42 (25–59) |
| DMD gene mutation typea: number (%) | |||
| Deletions | 27 (73) | 6 (66.7) | 4 (50) |
| Duplications | 3 (8.1) | 1 (11.1) | 2 (25) |
| Point mutations | 6 (16.2) | 2 (22.2) | 2 (25) |
| No mutation found | 1 (2.7) | ||
| Ambulantb: n (%) | 30 (81%) | 9 (100%) | 8 (100%) |
| Partial wheelchair use: n | 3 | 0 | 1 |
| Non-ambulant: n (%) | 7 (19%) | 0 (–) | 0 (–) |
| Age loss of ambulation: median (range) | 34 (11–57) | – | – |
| Cardiomyopathy: n (%) | 13 (35%) | 3 (33.3%) | 2 (25%) |
Cohort 1 (cross-sectional analysis): participants of whom at least 1 right TA muscle biopsy was available: 28 participants of the 2011 study, four participants of the 2014 study and five pediatric BMD patients from the outpatient clinic. Cohort 2 (longitudinal analysis): BMD participants of whom biopsy samples of the right TA muscle were available from the 2011 and 2014 study. Cohort 3 (inter-muscular analysis): participants from the 2014 study with biopsies of the right TA and VL muscle.
TA Tibialis anterior, VL Vastus lateralis.
aDetailed information on all mutations is shown in Supplementary Table S1.
bAmbulant was defined as being able to walk 10 m with support of a walking aid if needed.