Supplementary Table 1.
Clinical data and MRI signs of 11 patients with collagen VI-related myopathies
| Patient number | Phenotype | Gender/age (years) | Onset age (years) | Age of walking (months) | Hypotonia at birth | Delayed motor milestone | Contracture/distal hyperlaxity | Muscle strength proximal/distal | MRI signs sandwich/target |
|---|---|---|---|---|---|---|---|---|---|
| 1 | Ullrich | Male/5.0 | 0 | 18 | + | + | +/+ | 4–/4 | +/− |
| 2 | Ullrich | Male/5.1 | 0 | 18 | + | + | –/+ | 4–/4 | +/+ |
| 3 | Ullrich | Female/4.7 | 0 | 14 | + | + | +/+ | 4/5 | +/+ |
| 4 | Ullrich | Male/4.8 | 0 | 15 | + | + | +/+ | 4–/4 | +/+ |
| 5 | Ullrich | Male/6.8 | 0.5 | 18 | − | + | +/+ | 4/5 | +/− |
| 6 | Ullrich | Male/13.5 | 0 | 19 | + | + | +/+ | 4/5 | +/+ |
| 7 | Bethlem | Male/6.0 | 3.0 | ≤12 | − | − | –/− | 5–/5 | +/− |
| 8 | Bethlem | Male/9.0 | 7.0 | ≤12 | − | − | − | 4–/5 | –/− |
| 9 | Bethlem | Female/12.8 | 2.0 | ≤12 | − | − | +/− | 4/5 | +/+ |
| 10 | Bethlem | Male/29.0 | 5.0 | ≤12 | − | − | +/− | 4/5 | +/+ |
| 11 | Bethlem | Male/29.8 | 25.0 | ≤12 | − | − | − | 3+/4+ | +/+ |
+: With the symptom or sign; −: Without the symptom or sign; MRI: Magnetic resonance imaging.