A novel LAMP2 p.G93R mutation associated with mild Danon disease presenting with familial hypertrophic cardiomyopathy

Abstract Background Danon disease (DD) is an X‐linked dominant multisystem disorder that is associated with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. It results from mutations in the lysosome‐associated membrane protein 2 (LAMP2) gene. Methods Herein, a proba...

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Bibliographic Details

Published in:	Molecular Genetics & Genomic Medicine
Main Authors:	Jing Xu, Lu Wang, Xiangdong Liu, Qiming Dai
Format:	Article
Language:	English
Published:	Wiley 2019-10-01
Subjects:	Danon disease exome sequencing hypertrophic cardiomyopathy LAMP2 mutation
Online Access:	https://doi.org/10.1002/mgg3.941