A5049570202- Cardiomyopathy and Myosin Studies
- Cardiac pacing and defibrillation studies
- Diabetes Treatment and Management
- Metabolism, Diabetes, and Cancer
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Pharmacology and Obesity Treatment
- Viral Infections and Immunology Research
- Cardiovascular Function and Risk Factors
- Diet and metabolism studies
- COVID-19 Clinical Research Studies
- Signaling Pathways in Disease
- Long-Term Effects of COVID-19
- Cardiac Arrhythmias and Treatments
- Pancreatitis Pathology and Treatment
Hospital General Universitario Gregorio Marañón
2021
Centro de Investigación en Red en Enfermedades Cardiovasculares
2021
Universidad Complutense de Madrid
2021
Hospital Universitario La Paz
2013-2014
Universidad Autónoma de Madrid
2013
Objective One of the challenges in hypertrophic cardiomyopathy (HCM) is to determine pathogenicity genetic variants and establish genotype/phenotype correlations. This study aimed to: (1) demonstrate that MYBPC3 c.2149–1G>A a founder pathogenic variant, (2) describe phenotype clinical characteristics mutation carriers (3) compare these patients with those most frequent HCM variants: p.Arg502Trp/Gln. Methods We reviewed tests performed probands at our institution. carried out transcript...