Article
The transmission of OXPHOS disease and methods to prevent this.
Human reproduction update - 1 Jan 2000
Jacobs L J A M, de Wert G, Geraedts J P M, de Coo I F M, Smeets H J M
Abstract excerpt
Diseases owing to defects of oxidative phosphorylation (OXPHOS) affect approximately 1 in 8,000 individuals. Clinical manifestations can be extremely variable and range from single-affected tissues to multisystemic syndromes. In general, tissues with a high energy demand, like brain, heart and muscle, are affected. The OXPHOS system is under dual genetic control, and mutations in both nuclear and mitochondrial...
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