Mitochondrial disease

Definition:

Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.

References:

[1]. Chinnery, Patrick F. Primary Mitochondrial Disorders Overview.GeneReviews®, edited by Margaret P Adam et. al., University of Washington, Seattle, 8 June 2000. [Content Brief]

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