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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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Detalhes bibliográficos
Publicado no:J Cell Sci
Main Authors: Rowland, Teisha J., Sweet, Mary E., Mestroni, Luisa, Taylor, Matthew R. G.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2016
Assuntos:
Acesso em linha: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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