Table 2.
Summary of average frequencies of DMD gene variants identified in the seven considered macro-areas in the world.
| World Macro-Areas | Suspected Dystrophinopathies | DMD/BMD Patients | Detection Rate | Large Deletions | Large Duplications | Point Mutations/Small Rearrangements | |||
|---|---|---|---|---|---|---|---|---|---|
| N | N | N | % | N | % | N | % | ||
| Western Europe | 8922 | 7670 | 86.0 | 5011 | 65.3 | 991 | 12.9 | 1668 | 21.7 |
| East Europe | 826 | 620 | 75.1 | 367 | 59.2 | 75 | 12.1 | 178 | 28.7 |
| Asia | 12084 | 9913 | 82.0 | 7433 | 74.9 | 891 | 9.0 | 1589 | 16.0 |
| North Africa | 433 | 236 | 54.5 | 228 | 96.6 | 4 | 0.02 | 4 | 0.02 |
| South Africa | 389 | 178 | 45.8 | 144 | 80.9 | 34 | 19.1 | n.a. | n.a. |
| North America | 2091 | 1972 | 94.3 | 1127 | 57.2 | 203 | 10.3 | 642 | 32.5 |
| Central-South America | 210 | 169 | 80.4 | 136 | 80.5 | 20 | 11.8 | 13 | 7.7 |
| Total or percentages | 25.7 | 20.7 | 80.8 | 14.4 | 69.6 | 2218 | 10.7 | 4094 | 19.7 |
| This report | 750 | 719 | 95.8 | 534 | 71.2 | 73 | 10.1 | 112 | 15.6 |