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...
Topics
- Adult
- Aged
- Base Sequence
- Cardiac Myosins
- Cardiomyopathy, Hypertrophic
- Carrier Proteins
- Chest Pain
- Cohort Studies
- DNA Mutational Analysis
- Electrocardiography