title: Cardiac mitochondrial dysfunction in Leigh syndrome.
abstract: An infant with Leigh syndrome and associated cardiomyopathy is described. Abnormal activities of mitochondrial respiratory complexes III and V and a change in mtDNA at nt 8993 were detected in heart and skeletal muscle but not in liver.
authors.affiliation: Molecular Cardiology Institute, 75 Raritan Avenue, Highland Park, NJ 08904, U.S.A.
authors.forename: J
authors.initials: J
authors.lastname: Marin-Garcia
authors.forename: R
authors.initials: R
authors.lastname: Ananthakrishnan
authors.forename: M
authors.initials: M
authors.lastname: Korson
authors.forename: M J
authors.initials: MJ
authors.lastname: Goldenthal
authors.forename: A
authors.initials: A
authors.lastname: Perez-Atayde
mesh_terms: D009202:Cardiomyopathies / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007888:Leigh Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D008297:Male; D008929:Mitochondria, Heart / Q000201:enzymology / Q000235:genetics; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D004272:DNA, Mitochondrial