Article
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research - 1 Feb 2003
Sacconi Sabrina, Salviati Leonardo, Sue Carolyn M, Shanske Sara, Davidson Mercy M, Bonilla Eduardo, Naini Ali B, De Vivo Darryl C, DiMauro Salvatore
Abstract excerpt
Cytochrome c oxidase (COX) deficiency has been associated with a variety of clinical conditions and can be due to mutations in nuclear or mitochondrial genes. Despite recent progress in our understanding of the molecular bases of COX deficiency, the genetic defect remains elusive in many cases. We performed mutation screening in 30 patients with biochemical evidence of isolated COX deficiency and heterogeneous...
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