Table 2.
Cases of muscle dystrophy with deletions of exon 48: data from the literature and own material
| Source | Number of families | Number of cases | Age (years) | sCPK increased | Myogenic features (EMG) | Size of BMD group | % of BMD and comments |
|---|---|---|---|---|---|---|---|
| Beggs et al. (1991) | 1 | 1 | 7 | + | n.a. | 58 | 1.72 |
| Comi et al. (1994) | 2 | 2 | 5, 10 | + | n.a. | 59 | 3.39 |
| Morrone et al. (1997) | 1 | 4 | 8, 28, 51, 58 | + | n.a. | ? | – |
| Ramelli et al. (2006) | 1 | 2 | 9, 9 | + | + | ? | Monozygotic twins |
| Tuffery-Giraud et al. (2009) | 10 | 16 | ? | + | n.a. | 561 | 1.78 |
| Taglia et al. (2011) | ? | 16 | 7–52 | + | n.a. | ? | – |
| Diegoli et al. (2011) | 3 | 3 | 25, 38, 39 | + | n.a. | 34a | All three cardiomyopathya |
| Own material | 9 | 17 | 4–68 | + | See Table 1 | 227 | 3.96 |
n.a. not assessed
aThree cases of exon 48 deletion out of 34 cases of dilated cardiomyopathy in whom mutations in the dystrophin gene were found