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.

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Bibliographic Details
Published in:	Pediatric cardiology Vol. 17; no. 6; pp. 387 - 389
Main Authors:	Marin-Garcia, J, Ananthakrishnan, R, Korson, M, Goldenthal, M J, Perez-Atayde, A
Format:	Journal Article
Language:	English
Published:	United States 01-11-1996
Subjects:	Cardiomyopathies - complications Cardiomyopathies - enzymology Cardiomyopathies - genetics Child, Preschool DNA, Mitochondrial - genetics Fatal Outcome Humans Leigh Disease - complications Leigh Disease - enzymology Leigh Disease - genetics Male Mitochondria, Heart - enzymology Mitochondria, Heart - genetics Point Mutation Polymerase Chain Reaction
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Description
Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0172-0643 1432-1971
DOI:	10.1007/s002469900084