Table 1. Synopsis of clinical and paraclinical findings in patients II-2, II-6, II-7 and III-1.
| II-2 | II-6 | II-7 | III-1 | |
|---|---|---|---|---|
| SEPN1 mutation | + | - | + | + |
| SLC34A3 mutation | + | + | + | - |
| Delayed motor milestones | + | - | - | + |
| Muscular weakness | + | + | + | + |
| Muscular hypotonia | + | + | + | + |
| Rigid spine | + | - | - | - |
| Short stature | + | - | - | - |
| X-legs | + | + | + | - |
| Ventilatory failure (years) | 22 | - | - | 8 |
| Creatine kinase (12–174 U/l) | 51 | 80 | 78 | 116 |
| Abnormal EMG | + | - | + | - |
| Abnormal muscle biopsy | + | + | + | + |
| Loss of ambulance | - | - | - | - |
| Rickets | + | + | + | - |
| Serum calcium (2.0–2.6 mmol/l) | 2.4 | 2.4 | 2.6 | 2.1 |
| Serum phosphate(1.2–1.8 mmol/l) | 0.7 | 0.9 | 1.0 | 1.4 |
| Alkaline phosphatase (92–390 U/l) | 960 | 562 | 271 | 251 |
| Urine calcium/creatinine ratio (<0.3) | 0.76 | 1.13 | 0.59 | 0.18 |
| Phosphate re-absorption (82–90%) | 15 | 26 | 43 | 82 |
| 1,25- dihydroxy-cholecalciferol (18–62 pg/ml) | 21 | 60 | 111 | 45 |
Numbers in brackets correspond to normal and bold values to abnormal values