Article
Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions.
Human genetics - 1 Jun 2017
Renkema G H, Visser G, Baertling F, Wintjes L T, Wolters V M, van Montfrans J, de Kort G A P, Nikkels P G J, van Hasselt P M, van der Crabben S N, Rodenburg R J T
Abstract excerpt
The genetic basis of the many progressive, multi systemic, mitochondrial diseases that cause a lack of cellular ATP production is heterogeneous, with defects found both in the mitochondrial genome as well as in the nuclear genome. Many different mutations have been found in the genes encoding subunits of the enzyme complexes of the oxidative phosphorylation system. In addition, mutations in genes encoding...
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