Mitochondrial disorders result from mutations in mitochondrial DNA or nuclear genes regulating mitochondrial DNA (mtDNA) function and maintenance. Clinical syndromes may be multi-systemic or tissue-specific, and typically present in childhood or early adulthood. Neurological manifestations such as epilepsy are common, as neurons are particularly susceptible to mitochondrial dysfunction given their high metabolic demand [1]. However, case reports documenting the first presentation of a suspected mitochondrial disease above the age of 70 years are exceedingly rare.
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