A team of CNRS 6015/INSERM 1083

Consensus protocols of respiratory chain spectrophotometric assays for clinical diagnosis

This work is provided by the French Mitochondrial Diseases Network, created in 2000, including the entire community of biologists involved in the diagnosis of human mitochondrial disorders, the research laboratories working on the related pathologies together with the patients’ associations (AFM, AMMi and OLY).

The objectives of the network are the establishment of quality control criteria for biochemical and molecular analyses of mitochondrial diseases, the setting up of a national register of patients with mitochondrial diseases, the coordination of the analysis of the genes incriminated, and the organization of thematic sessions on specific presentations of mitochondrial diseases. Through realization of these objectives, we aim at the improvement of the diagnosis and care of the patients and their families, at initiation of large-scale epidemiological studies, and at emergence of research projects on mitochondrial diseases.

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Experimental validation