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Article

Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.

JACC. Heart failure - 1 Sept 2025

Perotto Maria, Paldino Alessia, Mazzarotto Francesco, Barbati Giulia, Stroeks Sophie L V M, Verdonschot Job A J, Akhtar Mohammed, Elliott Perry, Ochoa Juan Pablo, Garcia-Pavia Pablo, de Frutos Fernando, Sepp Robert, Hategan Lidia, Prasad Sanjay, Yazdani Momina, Morris-Rosendahl Deborah, Palinkas Eszter Dalma, Girolami Francesca, Olivotto Iacopo, Parikh Victoria N, Fatkin Diane, Lakdawala Neal, McKenna William J, Stolfo Davide, Gigli Marta, Brun Francesca, Collesi Chiara, Giacca Mauro, Zacchigna Serena, Severini Giovanni Maria, Lenarduzzi Stefania, Spedicati Beatrice, Santin Aurora, Girotto Giorgia, Gasparini Paolo, Taylor Matthew R G, Mestroni Luisa, Merlo Marco, Sinagra Gianfranco, Dal Ferro Matteo

Abstract excerpt

BACKGROUND: Nexilin (NEXN)-related cardiomyopathies (CMPs) are largely unexplored. OBJECTIVES: This study investigated the causative role of NEXN in CMPs, examining its phenotypic expression and prognostic profile. METHODS: Twelve referral centers collected phenotypic/genotypic data of patients with NEXN variants. Variant rarity was determined according to gnomAD allele frequency in CMPs. Burden enrichment tested...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40680702
DOI: 10.1016/j.jchf.2025.102529
PMCID: PMC12405182

Genes

NEXN
FLNC
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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