Barth syndrome cardiomyopathy.


Barth syndrome (BTHS) is an inherited form of cardiomyopathy, caused by a mutation within the gene encoding the mitochondrial transacylase tafazzin. Tafazzin is involved in the biosynthesis of the unique phospholipid cardiolipin (CL), which is almost exclusively found in mitochondrial membranes. CL directly interacts with a number of essential protein… (More)
DOI: 10.1093/cvr/cvx014


Cite this paper

@article{Dudek2017BarthSC, title={Barth syndrome cardiomyopathy.}, author={Jan Dudek and Christoph Maack}, journal={Cardiovascular research}, year={2017} }