Clinical Research Directory

Inclusion Criteria: * Patients suspected of a mitochondrial disease with muscular signs (clinical, histological or biochemical) * Patients with negative mtDNA and WES NGS in trio * Patients with routine muscle and skin biopsies available * Blood samples from parents and / or relatives available for segregation studies * Informed consent of the study signed by the patient or the legal representatives of the minor patient or under guardianship * Patients affiliated to social security Exclusion Criteria: * Patients with suspected mitochondrial disease without muscle involvement * Patients for whom the mtDNA NGS and WES have not been performed * Patients with suspected mitochondrial disease with causal variant identified * Refusal to sign the informed consent for the study * Insufficient amount of frozen material or culture failure for fibroblasts