Abstract | BACKGROUND: OBJECTIVE: To determine if COX16, COX19, and PET191 are implicated in human COX deficiency. METHODS: Mutation screening was performed on 53 patients with isolated COX deficiency by direct sequencing of COX19 and by single-strand conformational polymorphism analysis for COX16 and PET191. RESULTS: No mutations were found in COX16, COX19, or PET191 in these patients. CONCLUSIONS: The COX16, COX19, and PET191 genes are either not involved or very rarely involved in human COX deficiency. Mutations in additional COX assembly genes remain to be identified.
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Authors | Stacey K H Tay, Claudia Nesti, Michelangelo Mancuso, Eric A Schon, Sara Shanske, Eduardo Bonilla, Mercy M Davidson, Salvatore Dimauro |
Journal | Archives of neurology
(Arch Neurol)
Vol. 61
Issue 12
Pg. 1935-7
(Dec 2004)
ISSN: 0003-9942 [Print] United States |
PMID | 15596615
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- COX16 protein, S cerevisiae
- Membrane Proteins
- Mitochondrial Proteins
- Protein Subunits
- Saccharomyces cerevisiae Proteins
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Topics |
- Child
- Cytochrome-c Oxidase Deficiency
(enzymology, genetics)
- Humans
- Membrane Proteins
- Mitochondrial Proteins
(genetics, metabolism)
- Muscle, Skeletal
(enzymology)
- Mutation
- Polymorphism, Single-Stranded Conformational
- Protein Subunits
(genetics, metabolism)
- Saccharomyces cerevisiae Proteins
(genetics, metabolism)
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