Table 3 Clinical characteristics of patients with two null mutations and at least one missense mutation in DYSF gene
Clinical features | Group 1: two null mutations | Group 2: at least one missense mutations |
|---|---|---|
Patients of numbers | 10 | 8 |
Male: Female | 5:5 | 5:3 |
Age at onset (years) | 21.3 ± 5.2 | 27.8 ± 9.7 |
Mean age at examination (years) | 28.6 ± 6.8 | 38.6 ± 15.0 |
Mean disease duration (years) | 5.8 ± 6.0 | 10.9 ± 11.8 |
Clinical severity | Â | Â |
No upper limbs involvement (n) | 3 | 5 |
Gardner-Medwin and Walton scale | 3.3 ± 2.1 | 3.5 ± 2.9 |
Laboratory findings | Â | Â |
Mean CK level | 7553.1 ± 5330.1 | 7423.7 ± 10,239.4 |
Cardiorespiratory involvement (n) | 1 | 2 |