Articles with "bths cardiomyopathy" as a keyword



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Barth Syndrome Cardiomyopathy: An Update

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Published in 2022 at "Genes"

DOI: 10.3390/genes13040656

Abstract: Barth syndrome (BTHS) is an X-linked mitochondrial lipid disorder caused by mutations in the TAFAZZIN (TAZ) gene, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. Cardiomyopathy is a major clinical feature of BTHS.… read more here.

Keywords: barth syndrome; cardiomyopathy update; bths cardiomyopathy; syndrome cardiomyopathy ... See more keywords