Article
Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations.
Human mutation - 1 Jan 2000
Rubio-Gozalbo M E, Dijkman K P, van den Heuvel L P, Sengers R C, Wendel U, Smeitink J A
Abstract excerpt
Defects in oxidative phosphorylation (OXPHOS) are genetically unique because the different components involved in this process, respiratory chain enzyme complexes (I, III, and IV) and complex V, are encoded by nuclear and mitochondrial genome. The objective of the study was to assess whether there are clinical differences in patients suffering from OXPHOS defects caused by nuclear or mitochondrial DNA (mtDNA)...
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