Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

Autor: Peng Li, Richard I. Kelley, Julia Platt, Navneet Narula, Mariella Simon, Vincent Procaccio, Jagat Narula, Kevin A. Strauss, Lauren DuBiner, Erik G. Puffenberger, Michael V. Zaragoza, Partho P. Sengupta, D. Holmes Morton, Xilma R. Ortiz-Gonzalez, Douglas C. Wallace, Sandra Dreike

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, 2013, 110 (9), pp.3453-8. ⟨10.1073/pnas.1300690110⟩
Strauss, Kevin A.; DuBiner, Lauren; Simon, Mariella; Zaragoza, Michael; Sengupta, Partho P.; Li, Peng; et al.(2013). Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proceedings of the National Academy of Sciences of the United States of America, 110(9), 3453-3458. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/4n40k6f1

Mutations of both nuclear and mitochondrial DNA (mtDNA)–encoded mitochondrial proteins can cause cardiomyopathy associated with mitochondrial dysfunction. Hence, the cardiac phenotype of nuclear DNA mitochondrial mutations might be modulated by mtD

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https://hal.univ-angers.fr/hal-03404107