Article
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
European journal of human genetics : EJHG - 1 Mar 2011
Smits Paulien, Antonicka Hana, van Hasselt Peter M, Weraarpachai Woranontee, Haller Wolfram, Schreurs Marieke, Venselaar Hanka, Rodenburg Richard J, Smeitink Jan A, van den Heuvel Lambert P
Abstract excerpt
The mitochondrial translation system is responsible for the synthesis of 13 proteins required for oxidative phosphorylation (OXPHOS), the major energy-generating process of our cells. Mitochondrial translation is controlled by various nuclear encoded proteins. In 27 patients with combined OXPHOS deficiencies, in whom complex II (the only complex that is entirely encoded by the nuclear DNA) showed normal...
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