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MtDNA haplogroup modulates ANT1 cardiomyopathy


, : MtDNA haplogroup modulates ANT1 cardiomyopathy.

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.

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