Molecular investigations in the patients with defects in the complexes of the oxidative phosphorylation and the pyruvate dehydrogenase complex.

With the focus on mitochondrial diseases an excellent collaboration exists for several years between the laboratory of Medical Genetics of the Free University of Brussels and the laboratory of the Paediatric Department of the Ghent University Hospital. The mitochondrial centre that has emerged from this collaboration has become the reference centre for mitochondrial diseases in Belgium. With this project we want to develop new methods and new diagnostic possibilities for patients with mitochondrial encephalomyopathies and defects in pyruvate dehydrogenase complex (PDHc).