Table 1.
Summary of clinical features of patients with an exon 45–55 deletion mutation of the DMD gene.
Patient ID | Age at onset of symptoms | Symptoms at onset | Clinical status | Dilated cardiomyopathy | Ambulant | Reference |
---|---|---|---|---|---|---|
1 | 2 | Weakness | Mild BMD | not available | + | [58] |
2 | 3.5 | Weakness | Exercise intolerance | − | + | [58] |
3 | 3.5 | By chance | Asymptomatic | + | + | [58] |
4 | 4 | Weakness | Mild BMD | not available | + | [58] |
5 | 4 | Weakness | Mild BMD | not available | + | [58] |
6 | 4 | Fatigue, cramps after exercise | Mild BMD | − | + | [62] |
7 | 4 | Fatigue, mild difficulty in running | Mild BMD | − | + | [62] |
8 | 6 | Hyper-Ck-emia | Asymptomatic | − | + | [58] |
9 | 8 | Hyper-Ck-emia | Asymptomatic | − | + | [58] |
10 | 9 | Myoglobinuria | Mild BMD | − | + | [62] |
11 | 12 | Myalgia | Myalgia | not available | + | [58] |
12 | 12 | Exercise intolerance | Mild BMD | − | + | [58] |
13 | 13 | Muscle pain | Mild BMD | − | + | [58] |
14 | 13 | Hyper-Ck-emia | Mild BMD | − | + | [58] |
15 | 19 | Weakness | Mild BMD | − | + | [58] |
16 | 26 | Exertional dyspnea | No weakness and atrophy | + | + | [64] |
17 | 36 | Exertional dyspnea | No weakness and atrophy | + | + | [64] |
18 | 40 | Calf hypertrophy | Mild BMD | + | + | [58] |
19 | 45 | Weakness | Mild BMD | not available | + | [58] |
20 | 49 | Weakness | Mild BMD | not available | + | [58] |
21 | 55 | Walking difficulties | Mild BMD | − | + | [62] |
22 | 59 | Weakness | Mild BMD | − | + | [64] |
23 | 69 | Hyper-Ck-emia | Asymptomatic | − | + | [56] |