Article
Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy.
Annals of clinical and laboratory science - 1 Jan 2010
Brion Maria, Allegue Catarina, Gil Rocio, Blanco-Verea Alejandro, Carracedo Angel, Pagannone Erika, Evangelista Anna, Di Castro Sara, Marchitti Simona, Stanzione Rosita, Volpe Massimo, Rubattu Speranza
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is a genetic disorder characterized by cardiac hypertrophy caused by mutations in sarcomere protein genes. MYBPC3 mutations are reported as a frequent cause of HCM. We aimed to identify the gene mutation underlying HCM in an Italian patient and his family composed of 13 relatives. Mutation screening of 658 known mutations was performed using a rapid and efficient mutation...
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