Article
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Revista espanola de cardiologia (English ed.) - 1 Mar 2022
Lamounier Junior Arsonval, Guitián González Alba, Rodríguez Vilela Alejandro, Repáraz Andrade Alfredo, Rubio Alcaide Álvaro, Berta Sousa Ana, Benito López Carmen, Alonso García Diego, Fernández Ferro Germán, Cruz Inês, Cárdenas Reyes Ivonne Johana, Salazar-Mendiguchía García Joel, Larrañaga-Moreira José María, Ochoa Juan Pablo, Palomino-Doza Julián, de la Higuera Romero Luis, Nicolás Cicerchia Marcos, Restrepo Córdoba María Alejandra, Peña-Peña María Luisa, Noël Brögger Maria, Loureiro Marilia, Mogollón Jiménez María Victoria, Bilbao Quesada Raquel, Franco Gutiérrez Raúl, García Hernández Soledad, Ripoll-Vera Tomás, Fernández Xusto, Azevedo Olga, García Pavía Pablo, Lopes Luis R, Ortiz Martín, Brito Dulce, Barriales-Villa Roberto, Monserrat Iglesias Lorenzo
Abstract excerpt
INTRODUCTION AND OBJECTIVES: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.Arg21Leu variant in a serie of pedigrees. METHODS: TPM1 was evaluated by next-generation sequencing in 10 561 unrelated...
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