Primary mitochondrial diseases are clinically and genetically heterogeneous inherited metabolic disorders. Such disorders are caused by pathogenic variants in mitochondrial DNA (mtDNA), the circular double-stranded 16,569 base pair DNA molecule that encodes 37 genes, and nuclear DNA genes that regulate mitochondrial function and structure [1,2]. Mitochondrial disorders may manifest at any age, affect any organ, and often have poor prognoses [3]. Neurological impairment, in particular epilepsy, is common in patients with primary mitochondrial disease [4].
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