Combating the Diagnostic Impasse in Mitochondrial Diseases: a Transcriptomic Approach in Fibroblasts and Blood Cells

Inclusion Criteria

• •General criteria: major or minor patients, sporadic or isolated cases
• •Pathology-related criteria :
• •* Patients with suspected mitochondrial disease according to Morava criteria
• •* Identification of a predicted VSI, "possibly pathogenic" by SPICE and/or SpliceAI biοstatistical and biοinfοrmatic prediction tools, in a gene :
• •Compatible with the patient's phenotype
• •With sufficient expression in blood (TPM\>1, GTEX) predicted as "possibly pathogenic" by SPICE and/or SpliceAI biοstatistical and biοinfοrmatic prediction tools.
• •Signature of informed consent, for minor patients signature of at least one of the 2 parents or the representative of parental authority