Clinical Research Directory

Inclusion Criteria: * General inclusion criteria: * Patient weighing more than 30kg * Person affiliated with or receiving a social security plan; * Patient-specific inclusion criteria: * Patient with molecularly proven primary mitochondrial disease * Free, informed, written consent signed by parental authority holders for minor patients and the investigator prior to any examination required by the research and oral and/or written assent by the participant (depending on age). * Free, informed consent signed by the patient's representative for adult patients under guardianship and the investigator prior to any examination required by the research. * Free, informed consent signed by the patient of legal age and the investigator prior to any examination required by the research * Specific inclusion criteria for controls: * Person who has been informed of the purpose of the study and person matched in age (+/- 5 years) and sex to a patient with primary mitochondrial disease at the time of sampling * Free, informed, and signed consent * Person with no known mitochondrial disease Exclusion Criteria: * Pregnant or breastfeeding women * Refusal to consent to participate in research, * Patients for whom molecular causes have not been formally identified (genetic analyses not performed, or no variant or variant of unknown significance after analysis).