Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.

doi:10.1023/a:1005322409330

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Article

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.

Journal of inherited metabolic disease - 1 Sept 1997

Marin-Garcia J, Ananthakrishnan R, Goldenthal M J, Filiano J J, Perez-Atayde A

Abstract excerpt

Abnormalities in specific mitochondrial respiratory enzymes and DNA (mtDNA) have been reported in cardiomyopathy. In this study, we report 4 cases of severe hypertrophic cardiomyopathy (HCM) in which specific cardiac mitochondrial enzyme activity defects were found, including complex I (n = 2), c...

Topics

Cardiomyopathy, Hypertrophic
Child, Preschool
DNA, Mitochondrial
Female
Gene Deletion
Humans
Infant
Infant, Newborn
Male
Mitochondria, Heart
Mutation

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