title: Hypertrophic cardiomyopathy with mitochondrial DNA depletion and respiratory enzyme defects.
abstract: We report the case of a child with severe hypertrophic cardiomyopathy, with decreased activity levels of cardiac mitochondrial respiratory complex I and III, and with a pronounced reduction in cardiac mitochondrial DNA copy number level. Mitochondrial DNA depletion has not been previously reported in hypertrophic cardiomyopathy and it may play a role in its pathogenesis.
authors.affiliation: Molecular Cardiology Institute, Highland Park, NJ 08904, USA.
authors.forename: J
authors.initials: J
authors.lastname: Marin-Garcia
authors.forename: R
authors.initials: R
authors.lastname: Ananthakrishnan
authors.forename: M J
authors.initials: MJ
authors.lastname: Goldenthal
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000473:pathology*; D004272:DNA, Mitochondrial / Q000032:analysis*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D008929:Mitochondria, Heart / Q000201:enzymology* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial