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Comparison of HCM symptoms and possible molecular pathogenesis
| Sarcomeric dysfunction | Maximum LVWT (Ref.) | Cumulative survival rate (Ref.) | |
|---|---|---|---|
| V95A | nH ↓ TLC↑ Tact ↓ pCa50 ↑ K0 ↓ K1 ↓ K2 ↓ K5 ↓ k−2 ↑ k4 ↑ | 16 ± 6 mm (37) | Low, similar to that of MHC7 mutation R403Q (37) |
| D175N | nH ↓ TLC ↑ Tact ↓ K5 ↓ k2 ↑ | 20.3 ± 3.1 mm, significantly greater than for E180G (70) | Significantly higher than for MHC7 mutation R403Q (69) |
| E180G | nH ↓ TLC ↑ pCa50↑ K0 ↓ | 12.5 ± 4.7 mm (70) | Not studied |
