Article
Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.
Journal of the neurological sciences - 1 Mar 1992
Figarella-Branger D, Pellissier J F, Scheiner C, Wernert F, Desnuelle C
Abstract excerpt
Three children displaying hypotonia, cardiac involvement and defects of the mitochondrial respiratory chain complexes are reported. The first case showed severe neonatal hypotonia, failure to thrive, hepatomegaly, dilation of the right cardiac cavities, profound lactic acidosis and amino aciduria...
Topics
- Abnormalities, Multiple
- Acidosis, Lactic
- Cytochrome-c Oxidase Deficiency
- DNA, Mitochondrial
- Electron Transport
- Electron Transport Complex IV
- Heart Failure
- Hepatomegaly
- Humans
- Infant
- Lipid Metabolism
- Liver
- Male
- Mitochondria
- Muscle Hypotonia
- Muscles
- Myocardium
- Phenotype