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...

Disgrifiad llawn

Manylion Llyfryddiaeth

Prif Awduron:	Jing Xu, Lu Wang, Xiangdong Liu, Qiming Dai
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Wiley 2019-10-01
Cyfres:	Molecular Genetics & Genomic Medicine
Pynciau:	Danon disease exome sequencing hypertrophic cardiomyopathy LAMP2 mutation
Mynediad Ar-lein:	https://doi.org/10.1002/mgg3.941
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!