Article
Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control.
Biochemical and biophysical research communications - 15 Feb 1995
Ozawa T, Katsumata K, Hayakawa M, Tanaka M, Sugiyama S, Tanaka T, Itoyama S, Nunoda S, Sekiguchi M
Abstract excerpt
Comprehensive analyses of mitochondrial (mt)DNA of a recipient of heart transplantation at age 7 because of severe cardiomyopathy revealed three germ line point mutations, each one in the 12S rRNA gene, in the CO1 gene and in the cytochrome b gene, respectively. As the somatic mutation, extensive fragmentation of mtDNA associated with 212 kinds of deletions was detected in contrast to 5 kinds in an age-matched...
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