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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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| Publicado no: | Cureus |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cureus
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5884579/ https://ncbi.nlm.nih.gov/pubmed/29637036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.2155 |
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