Article
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.
European heart journal - 1 Aug 2007
Monserrat Lorenzo, Hermida-Prieto Manuel, Fernandez Xusto, Rodríguez Isabel, Dumont Carlos, Cazón Laura, Cuesta Margarita G, Gonzalez-Juanatey Carlos, Peteiro Jesús, Alvarez Nemesio, Penas-Lado Manuel, Castro-Beiras Alfonso
Abstract excerpt
AIMS: The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM). As prominent trabeculations were described in some carriers, we screened for the E101K mutation in our index patients with HCM, dilated cardiomyopathy (DCM), or left ventricular non-compaction (LVNC). METHODS AND RESULTS: Clinical, echocardiographic, and genetic screening by...
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