Article
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.
American journal of human genetics - 1 Nov 2006
Smeitink Jan A M, Elpeleg Orly, Antonicka Hana, Diepstra Heleen, Saada Ann, Smits Paulien, Sasarman Florin, Vriend Gert, Jacob-Hirsch Jasmine, Shaag Avraham, Rechavi Gideon, Welling Brigitte, Horst Jurgen, Rodenburg Richard J, van den Heuvel Bert, Shoubridge Eric A
Abstract excerpt
The 13 polypeptides encoded in mitochondrial DNA (mtDNA) are synthesized in the mitochondrial matrix on a dedicated protein-translation apparatus that resembles that found in prokaryotes. Here, we have investigated the genetic basis for a mitochondrial protein-synthesis defect associated with a combined oxidative phosphorylation enzyme deficiency in two patients, one of whom presented with encephalomyopathy and...
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