Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Abstract Aims The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies. Methods and results...

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Veröffentlicht in:	European heart journal 2021-08, Vol.42 (32), p.3063-3073
Hauptverfasser:	Lopes, Luis R, Garcia-Hernández, Soledad, Lorenzini, Massimiliano, Futema, Marta, Chumakova, Olga, Zateyshchikov, Dmitry, Isidoro-Garcia, Maria, Villacorta, Eduardo, Escobar-Lopez, Luis, Garcia-Pavia, Pablo, Bilbao, Raquel, Dobarro, David, Sandin-Fuentes, Maria, Catalli, Claudio, Gener Querol, Blanca, Mezcua, Ainhoa, Garcia Pinilla, Jose, Bloch Rasmussen, Torsten, Ferreira-Aguar, Ana, Revilla-Martí, Pablo, Basurte Elorz, Maria Teresa, Bautista Paves, Alicia, Ramon Gimeno, Juan, Figueroa, Ana Virginia, Franco-Gutierrez, Raul, Fuentes-Cañamero, Maria Eugenia, Martinez Moreno, Marina, Ortiz-Genga, Martin, Piqueras-Flores, Jesus, Analia Ramos, Karina, Rudzitis, Ainars, Ruiz-Guerrero, Luis, Stein, Ricardo, Triguero-Bocharán, Mayte, de la Higuera, Luis, Ochoa, Juan Pablo, Abu-Bonsrah, Dad, Kwok, Cecilia Y T, Smith, Jacob B, Porrello, Enzo R, Akhtar, Mohammed M, Jager, Joanna, Ashworth, Michael, Syrris, Petros, Elliott, David A, Monserrat, Lorenzo, Elliott, Perry M
Format:	Artikel
Sprache:	eng
Schlagworte:	Cardiomyopathy, Hypertrophic - genetics Clinical Research Heterozygote Humans Muscle Proteins - genetics Mutation Protein Kinases - genetics Sarcomeres
Online-Zugang:	Volltext
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