Article
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.
Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology - 1 Jan 2000
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 Federica, Zachara Elisabetta, d'Amati Giulia, Grammatico Paola
Abstract excerpt
BACKGROUND: 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 unfavorable prognosis have been reported. CASE REPORT: We describe the clinical, pathological, and...
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