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Danon disease: a case report and literature review

BACKGROUND: Danon disease (DD) is a rare x-linked dominant multisystemic disorder with a clinical triad of severe cardiomyopathy, skeletal myopathy, and mental retardation. It is caused by a defect in the lysosomal-associated membrane protein-2 (LAMP2) gene, which leads to the formation of autophagi...

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Detalles Bibliográficos
Autores principales: Xu, Jiamin, Li, Zhu, Liu, Yihai, Zhang, Xinlin, Niu, Fengnan, Zheng, Hongyan, Wang, Lian, Kang, Lina, Wang, Kun, Xu, Biao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088694/
https://www.ncbi.nlm.nih.gov/pubmed/33933120
http://dx.doi.org/10.1186/s13000-021-01100-8