Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.
Genes - 23 Jan 2023
Dosi Claudia, Rubegni Anna, Baldacci Jacopo, Galatolo Daniele, Doccini Stefano, Astrea Guja, Berardinelli Angela, Bruno Claudio, Bruno Giorgia, Comi Giacomo Pietro, Donati Maria Alice, Dotti Maria Teresa, Filosto Massimiliano, Fiorillo Chiara, Giannini Fabio, Gigli Gian Luigi, Grandis Marina, Lopergolo Diego, Magri Francesca, Maioli Maria Antonietta, Malandrini Alessandro, Massa Roberto, Matà Sabrina, Melani Federico, Messina Sonia, Mignarri Andrea, Moggio Maurizio, Pennisi Elena Maria, Pegoraro Elena, Ricci Giulia, Sacchini Michele, Schenone Angelo, Sampaolo Simone, Sciacco Monica, Siciliano Gabriele, Tasca Giorgio, Tonin Paola, Tupler Rossella, Valente Mariarosaria, Volpi Nila, Cassandrini Denise, Santorelli Filippo Maria
Abstract excerpt
Thanks to advances in gene sequencing, RYR1-related myopathy (RYR1-RM) is now known to manifest itself in vastly heterogeneous forms, whose clinical interpretation is, therefore, highly challenging. We set out to develop a novel unsupervised cluster analysis method in a large patient population. The objective was to analyze the main RYR1-related characteristics to identify distinctive features of RYR1-RM and,...
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