Dilated Cardiomyopathy and Sensorimotor Polyneuropathy Associated with a Homozygous <i>ELAC2</i> Variant: A Case Report and Literature Review

Variants in <i>ELAC2</i>, a gene encoding the mitochondrial RNase Z enzyme essential for mitochondrial tRNA processing, have been associated with severe pediatric-onset mitochondrial dysfunction, primarily presenting with developmental delay, hypertrophic cardiomyopathy (HCM), and lactic-acidosis. W...

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Detalhes bibliográficos

Principais autores:	Francesco Ravera, Filippo Angelini, Pier Paolo Bocchino, Gianluca Marcelli, Giulia Gobello, Giuseppe Giannino, Guglielmo Merlino, Benedetta De Guidi, Andrea Destefanis, Giulia Margherita Brach Del Prever, Carla Giustetto, Guglielmo Gallone, Stefano Pidello, Antonella Barreca, Silvia Deaglio, Gaetano Maria De Ferrari, Claudia Raineri, Veronica Dusi
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2025-07-01
coleção:	Cardiogenetics
Assuntos:	ELAC2 gene variants mitochondria cardiomyopathy hypertrophic cardiomyopathy dilated cardiomyopathy
Acesso em linha:	https://www.mdpi.com/2035-8148/15/3/20
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