Table 1.
Pathogenic CAV3 mutation associated with cardiovascular diseases.
Phenotype | CAV3 Mutation | Serum CK Concentrations | Ref. |
---|---|---|---|
LQTS | p.A85T | NA | Vatta, M. et al. [16] |
Sudden infant death syndrome | p.V14 L | NA | Cronk, L.B. et al. [17] |
Dilated cardiomyopathy | p.A46V | High | Catteruccia, M. et al. [18] |
Dilated cardiomyopathy | p.T78M | High | Traverso, M. et al. [19] |
Hypertrophic cardiomyopathy | p.T63S | Normal | Hayashi, T. et al. [20] |
Hypertrophic cardiomyopathy | P104L | NA | Ohsawa, Y. et al. [21] |
Hypercholesterolemia | p. Val44Met | High | Bruno, G. et al. [22] |
Atrial standstill | p. Leu84Pro | NA | Gal, D. B. et al. [23] |
NA, Not Available; LQTS, Long QT syndrome.