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Danon disease for the cardiologist: case report and review of the literature
Danon disease is a rare, X-linked dominant genetic disorder that is caused by defects in the lysosome-associated membrane protein 2 (LAMP2) gene. It manifests predominantly in young males with a classic triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Death from cardiac disea...
Autores principales: | D’souza, Ryan S., Mestroni, Luisa, Taylor, Matthew R. G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473185/ https://www.ncbi.nlm.nih.gov/pubmed/28638575 http://dx.doi.org/10.1080/20009666.2017.1324239 |
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