Associazione Nazionale Medici Cardiologi Ospedalieri

CONGRESS ABSTRACT

CONGRESS ABSTRACT

Categorie
Cardiac involvement in four novel nesprin-1 genetic variants
Anno:
2023
Background: Nesprins are proteins encoded by synaptic nuclear envelope (SYNE)-1 and -2 genes, that concur, together with lamin A/C and emerin, to nuclear envelope function. Almost 140 disease-related variants were identified, mostly resulting in central nervous system and skeletal muscle disorders; only a few were associated with cardiomyopathy, mostly…