Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA
- 1 July 1998
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 63 (1) , 29-36
- https://doi.org/10.1086/301910
Abstract
No abstract availableKeywords
This publication has 37 references indexed in Scilit:
- A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's SyndromeHuman Molecular Genetics, 1997
- Mitochondrial disordersCurrent Opinion in Neurology, 1996
- Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegiaBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1996
- Involvement of Cytochrome c Oxidase Subunit III in Energy CouplingBiochemistry, 1995
- Strand Asymmetry in Human Mitochondrial DNA MutationsGenomics, 1994
- Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathyHuman Molecular Genetics, 1994
- Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndromeThe Journal of Pediatrics, 1993
- A point mutation in the mitochondrial tRNALeu(UUR) gene in melas (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)Biochemical and Biophysical Research Communications, 1990
- Sequence and gene organization of the chicken mitochondrial genomeJournal of Molecular Biology, 1990
- Maternal inheritance of human mitochondrial DNA.Proceedings of the National Academy of Sciences, 1980