Danon disease: a case report and literature review

Danon disease: a case report and literature review

Abstract 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 a...

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Bibliographic Details
Main Authors: Jiamin Xu, Zhu Li, Yihai Liu, Xinlin Zhang, Fengnan Niu, Hongyan Zheng, Lian Wang, Lina Kang, Kun Wang, Biao Xu
Format: Article
Language:English
Published: BMC 2021-05-01
Series:Diagnostic Pathology
Subjects:
Danon disease
Cardiomyopathy
LAMP2
Mutation
NGS
Online Access:https://doi.org/10.1186/s13000-021-01100-8

Internet

https://doi.org/10.1186/s13000-021-01100-8

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