Clinical and genetic features in affected family members
| Patient | Age (years) | Sex | Clinical features | Serum CK (IU) | Biopsy | Dystrophin gene deletion |
|---|---|---|---|---|---|---|
| CK, creatine kinase; F, female; M, male. | ||||||
| I,2 | 76 | F | Cramps, calf hypertrophy | 384 | – | del 45–52 |
| II,1 | 55 | F | Calf hypertrophy | 314 | – | del 45–52 |
| II,2 | 54 | F | None | 120 | – | del 45–52 |
| II,3 | 52 | F | Cramps, calf hypertrophy | 327 | Yes | del 45–52 |
| II,4 | 49 | M | Myalgia, cramps, calf hypertrophy, myoglobinuria | 2560 | Yes | del 45–52 |
| II,5 | 45 | M | Myalgia, cramps, calf hypertrophy | 1250 | – | del 45–52 |
| II,7 | 40 | M | Myalgia, cramps, weakness, calf hypertrophy, myoglobinuria | 953 | Yes | del 45–52 |
| III,1 | 23 | F | None | – | – | del 45–52 |
| III,4 | 18 | F | None | – | – | del 45–52 |
| III,8 | 17 | M | Myalgia, cramps, calf hypertrophy, myoglobinuria | 4000 | – | del 45–52 |
| III,11 | 20 | F | – | – | – | del 45–52 |
| III,12 | 21 | F | – | – | – | del 45–52 |
| III,18 | 15 | F | None | 100 | – | del 45–52 |
| IV,1 | 7 | M | Myalgia, cramps, calf hypertrophy, myoglobinuria | 3212 | – | del 45–52 |