Mitochondrial diseases are multisystem heterogeneous disorders caused by dysfunction of the mitochondrial respiratory chain. They can be related to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). The diagnosis is essential for both genetic counseling as well as further treatment. Among 30 patients with multiple mtDNA deletions, nDNA mutations were confirmed in 8 patients. Additionally, 2 relatives of the already diagnosed patients were included in the study. Patients were assessed clinically, electrophysiologically and morphologically.

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