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Autor:
Greenwell, Amanda A., Tabatabaei Dakhili, Seyed Amirhossein, Gopal, Keshav, Saed, Christina T., Chan, Jordan S. F., Kazungu Mugabo, Nick, Zhabyeyev, Pavel, Eaton, Farah, Kruger, Jennifer, Oudit, Gavin Y., Ussher, John R.
Publikováno v:
Frontiers in Cardiovascular Medicine. 9
Barth syndrome (BTHS) is a rare genetic disorder due to mutations in the TAFAZZIN gene, leading to impaired maturation of cardiolipin and thereby adversely affecting mitochondrial function and energy metabolism, often resulting in cardiomyopathy. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5949824f03190ed249a67054ebf08be2
https://doi.org/10.3389/fcvm.2022.997352
https://doi.org/10.3389/fcvm.2022.997352
