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.
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review / Bottillo, I., Giordano, C., Cerbelli, B., D'Angelantonio, D., Lipari, M., Polidori, T., Majore, S., Bertini, E., D'Amico, A., Giannarelli, D., Bernardo, C.D., Masuelli, L., Musumeci, F., Avella, A., Re, F., Zachara, E., D'Amati, G., Grammatico, P.. - In: CARDIOVASCULAR PATHOLOGY. - ISSN 1054-8807. - STAMPA. - 25:5(2016), pp. 423-431. [10.1016/j.carpath.2016.07.005]
A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review
BOTTILLO, IRENE
Primo
;GIORDANO, Carla;CERBELLI, BRUNA;D'ANGELANTONIO, DANIELA;LIPARI, MARTINA;MASUELLI, Laura;D'AMATI, Giulia;GRAMMATICO, Paola
2016
Abstract
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.| File | Dimensione | Formato | |
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