Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

doi:10.1136/heartjnl-2020-316913

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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Heart (British Cardiac Society) - 1 Sept 2020

Salazar-Mendiguchía Joel, Ochoa Juan Pablo, Palomino-Doza Julian, Domínguez Fernando, Díez-López Carles, Akhtar Mohammed, Ramiro-León Soraya, Clemente María M, Pérez-Cejas Antonia, Robledo María, Gómez-Díaz Iria, Peña-Peña María Luisa, Climent Vicente, Salmerón-Martínez Francisco, Hernández Celestino, García-Granja Pablo E, Mogollón M Victoria, Cárdenas-Reyes Ivonne, Cicerchia Marcos, García-Giustiniani Diego, Lamounier Arsonval, Gil-Fournier Belén, Díaz-Flores Felícitas, Salguero Rafael, Santomé Luis, Syrris Petros, Olivé Montse, García-Pavía Pablo, Ortiz-Genga Martín, Elliott Perry M, Monserrat Lorenzo

Abstract excerpt

OBJECTIVE: Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. We sought to investigate the relationship between rare variants in TRIM63 and the development of HCM. METHODS: TRIM63 was sequenced by next...

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Identifiers

PMID: 32451364
DOI: 10.1136/heartjnl-2020-316913
PMCID: PMC7476281

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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