Table 2. Clinical data are shown of the FSHD patients and controls from whom the primary myoblasts and biopsy material were isolated, such as gender, age and repeat size.
| Sample | Gender | Age (years) | Pathological grade | Repeat size (kb) |
|---|---|---|---|---|
| Myoblast/myotube cultures: | ||||
| Control A | F | 27 | − | 158 |
| Control B | M | 35 | − | 87 |
| Control C | F | 56 | − | ND |
| Control D | F | 42 | − | 65 |
| FSHD A | M | 41 | + | 18 |
| FSHD B | F | 45 | + | 25 |
| FSHD C | M | 40 | +++ | 31 |
| FSHD D | M | 57 | + | 26 |
| DM1 A | F | − | − | 75 |
| DM1 B | F | − | − | 85 |
| DM1 C | F | − | − | 130 |
| Muscle biopsy material | ||||
| Control 1 | M | 30 | − | ND |
| Control 2 | F | 62 | − | ND |
| Control 3 | M | 44 | − | ND |
| Control 4 | M | 34 | − | ND |
| Control 5 | F | 47 | − | ND |
| Control 6 | F | 34 | − | ND |
| Control 7 | M | 53 | − | ND |
| Control 8 | M | 37 | − | ND |
| Control 9 | M | 65 | − | ND |
| Control 10 | F | 59 | − | ND |
| FSHD 1 | F | 61 | + | 18 |
| FSHD 2 | M | 60 | + | 26 |
| FSHD 3 | M | 33 | ++ | 16 |
| FSHD 4 | F | 57 | + | 27 |
| FSHD 5 | M | 35 | ++ | 15 |
| FSHD 6 | F | 55 | ++ | 27 |
| FSHD 7 | M | 43 | + | 28 |
| FSHD 8 | M | 54 | + | 36 |
| FSHD 9 | M | 37 | + | 33 |
| FSHD 10 | F | 45 | + | 27 |
The pathological grade of each biopsy was determined histologically based on examination of fiber size variability, extent of central nucleation, presence of necrosis/ regeneration and the presence of interstitial fibrosis. For each of the four features a score of 0–3 was given, 0 being normal and 3 being severely affected, for a cumulative score of 0–12. To simplify the tabulated scores the numerical score was converted +, mildly affected (score 1–4), ++, moderately affected (score 5–8) and +++, severely affected (score 9–12). For one sample a histological sample was unavailable and pathological scoring was not done (ND).