Fatal infantile mitochondrial encephalomyopathy with complex I and IV deficiencies
- 30 April 1993
- journal article
- case report
- Published by Elsevier in Pediatric Neurology
- Vol. 9 (2) , 151-154
- https://doi.org/10.1016/0887-8994(93)90054-g
Abstract
No abstract availableKeywords
This publication has 13 references indexed in Scilit:
- Mitochondrial tRNAthr mutation in fatal infantile respiratory enzyme deficiencyBiochemical and Biophysical Research Communications, 1991
- A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathiesNature, 1990
- Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutationCell, 1990
- Findings in muscle in complex I (NADH coenzyme Q reductase) deficiencyAnnals of Neurology, 1988
- Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy.Journal of Clinical Investigation, 1987
- Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.Journal of Clinical Investigation, 1987
- Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia.Journal of Clinical Investigation, 1986
- Mitochondrial myopathiesAnnals of Neurology, 1985
- Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis.Journal of Clinical Investigation, 1984
- Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated MusclesPediatric Research, 1977