Clinicopathological features associated with the BAG3-Pro209Leu mutation


Recently, we analyzed in detail the histopathology of a heart explant from a child with BAG3-Pro209Leu mutation and found evidence for dysregulated autophagy in the mutant cardiac tissue [1]. Finsterer and Zarrouk-Mahjoub have summarized the phenotypic spectrum of pathologies that have been associated with BAG3 mutations in the literature and have compiled… (More)


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