Article
Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.
International journal of molecular sciences - 22 May 2023
Monda Emanuele, Lioncino Michele, Caiazza Martina, Simonelli Vincenzo, Nesti Claudia, Rubino Marta, Perna Alessia, Mauriello Alfredo, Budillon Alberta, Pota Vincenzo, Bruno Giorgia, Varone Antonio, Nigro Vincenzo, Santorelli Filippo Maria, Pacileo Giuseppe, Russo Maria Giovanna, Frisso Giulia, Sampaolo Simone, Limongelli Giuseppe
Abstract excerpt
Cardiomyopathies are mostly determined by genetic mutations affecting either cardiac muscle cell structure or function. Nevertheless, cardiomyopathies may also be part of complex clinical phenotypes in the spectrum of neuromuscular (NMD) or mitochondrial diseases (MD). The aim of this study is to describe the clinical, molecular, and histological characteristics of a consecutive cohort of patients with...
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