TABLE 1.
Patient characteristics per genotype
| DNM2 (n = 18) | MTM1, male patients (n = 10) | MTM1, female carriers (n = 4) | RYR1 (n = 9) | BIN1 (n = 7) | Overall (n = 48) | |
|---|---|---|---|---|---|---|
| Male sex (%) | 8 (44) | 10 (100) | 0 | 5 (56) | 3 (43) | 26 (54) |
| Age (range), y | 36 ± 23 (4–77) | 9 ± 14 (0–41) | 50 ± 18 (23–61) | 29 ± 18(7–50) | 48 ± 26 (12–80) | 32 ± 24 (0–80) |
| Age onset, y | 9 ± 13 | 0 ± 0 | 17 ± 24 | 7 ± 13 | 33 ± 26 | 11 ± 18 |
| Age diagnosis, y | 24 ± 19 (n = 17) | 2 ± 3 (n = 8) | 45 ± 18 | 14 ± 16 | 39 ± 23 | 22 ± 21 (n = 45) |
| Age at death, y | ‐ | 7 ± 15(n = 7) | ‐ | ‐ | ‐ | 7 ± 15(n = 7) |
| Delay between onset and diagnosis, y | 14 ± 14 (n = 17) | 2 ± 4 (n = 8) | 29 ± 24 | 7 ± 12 | 6 ± 11 | 11 ± 14 (n = 45) |
| Family members with neuromuscular disease/symptoms (%) | 11 (61) | 5 (50) | 2 (50) | 4 (44) | 7 (100) | 29 (60) |
| Stillbirth in family members (%) | 1 (6) | 2 (20) | 3 (75) | 0 | 0 | 6 (13) |
| Creatine kinase level, IU/L | 199 ± 265 (n = 11) | 199 ± 144 (n = 4) | 428 ± 385 (n = 4) | 117 ± 160 (n = 6) | 261 ± 218 (n = 4) | 222 ± 249 (n = 29) |
Note: Values are presented as means with SD (n ± SD) or counts with percentages (n[%]).
Abbreviations: IU/L, international units per liter; y, year.