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Danon disease – dysregulation of autophagy in a multisystem disorder with cardiomyopathy
Danon disease is a rare, severe X-linked form of cardiomyopathy caused by deficiency of lysosome-associated membrane protein 2 (LAMP-2). Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems. Although individuals with Danon disease have been clinically descri...
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| Veröffentlicht in: | J Cell Sci |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Company of Biologists Ltd
2016
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4920246/ https://ncbi.nlm.nih.gov/pubmed/27165304 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.184770 |
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