Article
Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.
Journal of cellular physiology - 1 Nov 2011
Roncarati Roberta, Latronico Michael V G, Musumeci Beatrice, Aurino Stefania, Torella Annalaura, Bang Marie-Louise, Jotti Gloria Saccani, Puca Annibale A, Volpe Massimo, Nigro Vincenzo, Autore Camillo, Condorelli Gianluigi
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) reported as the most frequently mutated: in fact, these account for around 50% of all cases related to sarcomeric gene mutations, which are collectively...
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