<i>LAMP2</i> variants in four Chinese children with Danon disease: clinical and molecular analysis in a monocentric cohort

This study identified four patients with <i>LAMP2</i> gene variants, thereby enriching the documented genetic landscape of <i>LAMP2</i>-associated disorders. Bioinformatics analyses corroborated the pathogenicity of these variants. Additionally, we emphasised that women with suspected Danon disease should be thoroughly evaluated, and the possibility of implantable cardioverter defibrillator implantation and heart transplantation should be considered and discussed as early as possible.