Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement
- 31 March 1992
- journal article
- case report
- Published by Elsevier BV in Journal of the Neurological Sciences
- Vol. 108 (1), 105-113
- https://doi.org/10.1016/0022-510x(92)90195-q
Abstract
No abstract availableThis publication has 28 references indexed in Scilit:
- Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical and morphological studiesJournal of the Neurological Sciences, 1991
- Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathyBiochemical and Biophysical Research Communications, 1989
- 3‐Methylglutaconic aciduria: Familial neonatal form with fatal onsetJournal of Inherited Metabolic Disease, 1987
- Cytochrome Oxidase Deficiency: Clinical and Biochemical HeterogeneityAnnals of the New York Academy of Sciences, 1986
- Fatal infantile cytochrome c oxidase deficiencyNeurology, 1985
- An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytesJournal of the Neurological Sciences, 1983
- Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousinAnnals of Neurology, 1983
- Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiencyAnnals of Neurology, 1983
- Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiencyNeurology, 1980
- Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimensBiochemical Medicine, 1978