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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Bibliografische Detailangaben

Hauptverfasser:	Jing Xu, Lu Wang, Xiangdong Liu, Qiming Dai
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2019-10-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	Danon disease exome sequencing hypertrophic cardiomyopathy LAMP2 mutation
Online-Zugang:	https://doi.org/10.1002/mgg3.941
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