Fiche publication
Date publication
décembre 2023
Journal
Circulation. Genomic and precision medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence
Tous les auteurs :
Hermida A, Ader F, Millat G, Jedraszak G, Maury P, Cador R, Antoine Catalan P, Clerici G, Combes N, De Groote P, Dupin-Deguine D, Eschalier R, Faivre L, Garcia P, Guillon B, Janin A, Kugener B, Lackmy M, Laredo M, Le Guillou X, Lesaffre F, Lucron H, Milhem A, Nadeau G, Nguyen K, Palmyre A, Perdreau E, Picard F, Rebotier N, Richard P, Rooryck C, Seitz J, Verloes A, Vernier A, Winum P, Yabeta GA, Bouchot O, Chevalier P, Charron P, Gandjbakhch E
Lien Pubmed
Résumé
Few clinical data are available on mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in and to describe the phenotype and prognosis of patients carrying the variants.
Mots clés
dilated cardiomyopathy, hypertrophic cardiomyopathy, mutation, phenotype, prognosis
Référence
Circ Genom Precis Med. 2023 12 7;:e004285
