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, Irene; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola. - 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;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.
2016
Cardiac hypertrophy; Danon disease; Genotype–Phenotype correlations; LAMP2; Lysosomal vacuoles; Microvascular remodeling; X-chromosome inactivation study (XCI)
01 Pubblicazione su rivista::01i Case report
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; Giordano, Carla; Cerbelli, Bruna; D'Angelantonio, Daniela; Lipari, Martina; Polidori, Taisia; Majore, Silvia; Bertini, Enrico; D'Amico, Adele; Giannarelli, Diana; Bernardo, Carmelilia De; Masuelli, Laura; Musumeci, Francesco; Avella, Andrea; Re, Federica; Zachara, Elisabetta; D'Amati, Giulia; Grammatico, Paola. - In: CARDIOVASCULAR PATHOLOGY. - ISSN 1054-8807. - STAMPA. - 25:5(2016), pp. 423-431. [10.1016/j.carpath.2016.07.005]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/878491
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