A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodelling in a female with Danon disease: a case report and literature review

Danon disease (DD) is a rare disorder characterized by cardiomyopathy, intellectual disability and proximal myopathy. It is caused by mutations in the LAMP2 gene on X chromosome. Female patients most often present with late onset cardiomyopathy and slow disease progression, but early-onset cases with unfavourable prognosis have been reported.

Source: Cardiovascular Pathology - July 24, 2016 Category: Cardiology Authors: Bottillo Irene, Giordano Carla, Cerbelli Bruna, D'Angelantonio Daniela, Lipari Martina, Polidori Taisia, Majore Silvia, Bertini Enrico, D'Amico Adele, Giannarelli Diana, De Bernardo Carmelilia, Masuelli Laura, Musumeci Francesco, Avella Andrea, Re Federic Source Type: research