LAMP2 microdeletions in patients with Danon disease

BACKGROUND: Danon disease is an X-linked dominant disorder characterized by the clinical triad of hypertrophic cardiomyopathy (HCM), skeletal myopathy and variable mental retardation. Pathologically, autophagic vacuoles are noted in both skeletal and cardiac muscle. It exhibits an X-linked dominant...

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Main Authors: Yang, Zhao, Funke, Birgit H., Cripe, Linda H., Vick, G. Wesley, Mancini-Dinardo, Debora, Peña, Liana S., Kanter, Ronald J., Wong, Brenda, Westerfield, Brandy H., Varela, Jaquelin J, Fan, Yuxin, Towbin, Jeffrey A., Vatta, Matteo
Formáid: Artigo
Teanga:Inglês
Foilsithe: 2010
Ábhair:
Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2895413/
https://ncbi.nlm.nih.gov/pubmed/20173215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.109.901785
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