We conclude that the AHCM-causing ACTCE99K mutation is associated with progressive alterations in biomechanical parameters, with changes smaller at 2 months but larger at 5 months, correlating with the development of AHCM.
We generated a transgenic mouse model expressing the apical hypertrophic cardiomyopathy-causing mutation ACTCE99K at 50% of total heart actin and compared it with actin from patients carrying the same mutation.
Clinical, echocardiographic, and genetic screening by restriction fragment length polymorphism of the ACTCE101K mutation in 247 families with HCM, DCM, or LVNC.