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

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

Internet

https://doi.org/10.1002/mgg3.941

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