Table 1.
Frequency of DMD Mutations in the Muscular Dystrophy Surveillance Tracking and Research Network Cohort
| All Definite and Probable Cases | Cases With Confirmatory Results | |
|---|---|---|
| Negative testing or insufficient records | 84 (17.9%) | – |
| DMD deletiona | 270 (57.4%) | 270 (78.3%) |
| DMD duplicationb | 39 (8.3%) | 39 (11.3%) |
| DMD point mutationc | 36 (7.7%) | 36 (10.4%) |
| No DMD mutation analysis | 41 (8.7%) | – |
| 470 | 345 |
a
Only 251 of 270 individuals with DMD deletion have mutation details for analysis.
b
Only 34 of 39 individuals with DMD duplications have mutation details for analysis.
c
Only 32 of 36 individuals with DMD point mutations have mutation details for analysis.