Cardiac mitochondrial dysfunction in Leigh syndrome.
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.
Marin-Garcia
J
J
Molecular Cardiology Institute, 75 Raritan Avenue, Highland Park, NJ 08904, U.S.A.
Ananthakrishnan
R
R
Korson
M
M
Goldenthal
M J
MJ
Perez-Atayde
A
A
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
D004272:DNA, Mitochondrial