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. 2022 Mar 14;11(6):1595. doi: 10.3390/jcm11061595

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.