A case report of delayed diagnosis of danon disease: Caused by a newly recognized mutation in the lysosome-associated membrane protein-2 gene

INTRODUCTION: Danon disease is a rare X-linked dominant genetic disorder caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. Unless treated, cardiogenic death is the main cause of mortality. This case report describes a 19-year-old man who was diagnosed with Danon disease a...

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Detalles Bibliográficos
Autores principales: Zhang, Ying, Ren, Hang, Zhou, Shanshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2020
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7535637/
https://www.ncbi.nlm.nih.gov/pubmed/33019488
http://dx.doi.org/10.1097/MD.0000000000022640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7535637/
https://www.ncbi.nlm.nih.gov/pubmed/33019488
http://dx.doi.org/10.1097/MD.0000000000022640

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