Abstract
Primary mitochondrial disorders remain uncommon, but they enter into the differential diagnosis for a broad range of syndromes. Functional and structural imaging methods offer important clinical tools for patient assessment when these diseases are suspected. Although the findings are not specific, in the appropriate clinical context, these tests can guide the use of more specific or invasive investigations. They have provided considerable information concerning the underlying pathophysiology of this heterogeneous range of disorders. Monitoring these changes potentially facilitates the identification of new therapies and their individualization.
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