Table 1 Distribution and spectrum of other pathogenic and likely pathogenic variants identified in the cohort.
Patients | All (N = 530) | Helsinki cohort (N = 145) | Groningen cohort (N = 169) | Amsterdam cohort (N = 216) |
|---|---|---|---|---|
Gender distribution, n (%) | ||||
Males | 311 (58.7) | 107 (73.8) | 95 (56.2) | 109 (50.5) |
Females | 219 (41.3) | 38 (26.2) | 74 (43.8) | 107 (49.5) |
Diagnostic yield, n (%) | ||||
Mutation positive | 157 (29.6) | 51 (35.2) | 37 (21.9) | 69 (31.9) |
Mutation negative | 373 (70.4) | 94 (64.8) | 137 (81.1) | 147 (68.1) |
Causative gene, n (%) | ||||
Sarcomeric | 108 (20.4) | 28 (19.3) | 22 (13.0) | 58 (26.9) |
TPM1 | 1 (0.2) | — | — | 1 (0.5) |
TCAP | 1 (0.2) | 1 (0.7) | — | — |
TNNT2 | 2 (0.4) | 1 (0.7) | — | 1 (0.5) |
TNNI3 | 2 (0.4) | — | — | 2 (0.9) |
MYH7 | 5 (0.9) | 1 (0.7) | 2 (1.2) | 2 (0.9) |
TTN | 97 (18.3) | 25 (17.2) | 20 (11.8) | 52 (24.1) |
Non-sarcomeric | 49 (9.2) | 23 (15.7) | 15 (8.9) | 11 (5.1) |
DMD | 1 (0.2) | 1 (0.7) | — | — |
RBM20 | 10 (1.9) | 2 (1.4) | 3 (1.8) | 5 (2.3) |
PLN | 11 (2.1) | — | 7 (4.1) | 4 (1.9) |
DSP | 12 (2.3) | 8 (5.5) | 2 (1.2) | 2 (0.9) |
LMNA | 15 (2.8) | 12 (8.3) | 3 (1.8) | — |
