MUTATION OF DYSTROPHIN GENE AND CARDIOMYOPATHY

The correlations between the type of gene mutation and the cardiac cli nical picture were examined in 284 patients with dystrophinopathy (200 Duchenne and 84 Becker). The subjects with normal heart showed deleti ons including exons 48-49 in 21.4% DMD and in 25% BMD, and other delet ions in 35.7% DMD and 25% BMD; vice versa the cases with severe cardia c involvement showed deletions including 48-49 in 38.8% DMD and 37.5% BMD and other deletions in 32.9% DMD and 20% BMD. The age of death was 18 years in DMD patients with deletions including 48-49 whereas the a ge was about 22 in the cases with other deletions. The differences wer e statistically significant.