A Mild Version of Danon Disease Caused by a Newly Recognized Mutation in the Lysosome-associated Membrane Protein-2 Gene

We present the case of a patient with dilated cardiomyopathy caused by a novel mutation in the lysosome-associated membrane protein-2 (LAMP-2) gene. Patients with pathogenic mutations of this gene typically suffer from Danon disease – a condition that leads to cognitive decline, severe skeletal myop...

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Detalles Bibliográficos
Autores principales: Kyaw, Htoo, Shaik, Fatima, Lin, Aung Naing, Shinnar, Meir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Cardiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884579/
https://www.ncbi.nlm.nih.gov/pubmed/29637036
http://dx.doi.org/10.7759/cureus.2155

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884579/
https://www.ncbi.nlm.nih.gov/pubmed/29637036
http://dx.doi.org/10.7759/cureus.2155

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