MITOMICS aims to determine which RNA-Seq results (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method
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
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