Article
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 - 26 Feb 2013
Strauss Kevin A, DuBiner Lauren, Simon Mariella, Zaragoza Michael, Sengupta Partho P, Li Peng, Narula Navneet, Dreike Sandra, Platt Julia, Procaccio Vincent, Ortiz-González Xilma R, Puffenberger Erik G, Kelley Richard I, Morton D Holmes, Narula Jagat, Wallace Douglas C
Abstract excerpt
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 mtDNA variation. We studied a 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC,...
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