Groups of patients analysed
| Clinical syndromes | Clinical subgroups | Number of patients | Number of mutations (%) | |
|---|---|---|---|---|
| 1 | EDMD | 38 | 15 (39.5) | |
| 2 | Isolated heart disorders | dilated cardiomyopathy | 30 | 1 (3.3) |
| conduction defects, arrhythmia | 25 | 1 (4) | ||
| combination | 16 | none | ||
| 3 | Myopathy | with heart involvement | 12 | none |
| without heart involvement | 20 | 1 (5) | ||
| 4 | Idiopathic hyperCKaemia | 23 | none | |
| 5 | Lipodystrophy | 2 | none | |