Article
Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation Society - 1 Jan 2013
Núñez Lucía, Gimeno-Blanes Juan Ramón, Rodríguez-García María Isabel, Monserrat Lorenzo, Zorio Esther, Coats Caroline, McGregor Christopher G, Hernandez del Rincón Juan Pedro, Castro-Beiras Alfonso, Hermida-Prieto Manuel
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous genetic heart disease characterized by left ventricular hypertrophy in the absence of another disease that could explain the wall thickening. Elucidation of the genetic basis of HCM lead to the identification of several genes encoding sarcomeric proteins, such as MYH7, MYBPC3, TPM1, TNNT2, and TNNI3. Sarcomeric genes are mutated in...
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