Articles with "pro209leu mutation" as a keyword



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Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3.

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Published in 2018 at "Molecular genetics and metabolism"

DOI: 10.1016/j.ymgme.2018.01.001

Abstract: Myofibrillary myopathies (MFM) are hereditary myopathies histologically characterized by degeneration of myofibrils and aggregation of proteins in striated muscle. Cardiomyopathy is common in MFM but the pathophysiological mechanisms are not well understood. The BAG3-Pro209Leu mutation… read more here.

Keywords: bag3 pro209leu; restrictive cardiomyopathy; pro209leu mutation; mutation ... See more keywords