Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes

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 de...

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Veröffentlicht in:	International journal of molecular sciences 2023-05, Vol.24 (10), p.9108
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Biopsy Cardiac muscle Cardiac patients Cardiomyopathies - diagnosis Cardiomyopathies - genetics Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiovascular disease Cytology Diagnosis Ejection fraction Electromyography Family medical history Gait Gene mutations Genetic aspects Genetic research Genetic screening Genetic testing Genotype & phenotype Heart diseases Heart failure Humans Kinases Mitochondria Mitochondrial Diseases - diagnosis Mitochondrial Diseases - genetics Muscles Muscular Diseases - diagnosis Muscular Diseases - genetics Mutation Myopathy Patients Phenotype Phenotypes Rare diseases Stains & staining Structure-function relationships
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