Mitochondrial Diseases

Mitochondrial diseases are a group of disorders originating from variants in nuclear DNA or mitochondrial DNA (mtDNA) and resulting in a wide spectrum of pathological conditions, often with significant neurologic and myelopathic symptoms. Many commonly seen conditions can be classified as discrete clinical syndromes; however, the presentation and severity of the conditions may vary, creating challenges in diagnosis and treatment.

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Last Update: November 2019