Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
- 1 November 1999
- journal article
- case report
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 23 (3), 333-337
- https://doi.org/10.1038/15513
Abstract
No abstract availableThis publication has 25 references indexed in Scilit:
- Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory ChainGenomics, 1998
- CYTOCHROME C OXIDASE: Structure and SpectroscopyAnnual Review of Biophysics and Biophysical Chemistry, 1998
- Isolation of a cDNA encoding the human homolog of COX17 , a yeast gene essential for mitochondrial copper recruitmentHuman Genetics, 1997
- Mitochondrial DNA Mutations and PathogenesisJournal of Bioenergetics and Biomembranes, 1997
- Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiae.Proceedings of the National Academy of Sciences of the United States of America, 1994
- Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutant.Proceedings of the National Academy of Sciences of the United States of America, 1994
- The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1Current Genetics, 1992
- Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeNeurology, 1991
- 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