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Cardiac‐specific succinate dehydrogenase deficiency in Barth syndrome

Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin. It has remained enigmatic as to why a systemic loss of cardiolipin leads to cardiomyopathy. Using a genetic ablation of tafazzi...

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Detalles Bibliográficos
Autores principales: Dudek, Jan, Cheng, I‐Fen, Chowdhury, Arpita, Wozny, Katharina, Balleininger, Martina, Reinhold, Robert, Grunau, Silke, Callegari, Sylvie, Toischer, Karl, Wanders, Ronald JA, Hasenfuß, Gerd, Brügger, Britta, Guan, Kaomei, Rehling, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734842/
https://www.ncbi.nlm.nih.gov/pubmed/26697888
http://dx.doi.org/10.15252/emmm.201505644