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

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 proband with...

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Detalles Bibliográficos
Autores principales: Xu, Jing, Wang, Lu, Liu, Xiangdong, Dai, Qiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785429/
https://www.ncbi.nlm.nih.gov/pubmed/31464081
http://dx.doi.org/10.1002/mgg3.941

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