Articles with "lamp deficiency" as a keyword



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Clinical features of Danon disease and insights gained from LAMP-2 deficiency models.

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Published in 2021 at "Trends in cardiovascular medicine"

DOI: 10.1016/j.tcm.2021.10.012

Abstract: Danon disease (DD) is an X-linked multisystem disorder with clinical features characterized by the triad of hypertrophic cardiomyopathy, skeletal muscle weakness, and mental retardation. Cardiac involvement can be fatal in the absence of an effective… read more here.

Keywords: clinical features; lamp deficiency; danon disease; disease insights ... See more keywords