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Mitochondrial Disease 

Mitochondrial Disease
Chapter:
Mitochondrial Disease
Author(s):

Radhika Dhamija

and Ralitza H. Gavrilova

DOI:
10.1093/med/9780190244927.003.0087
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date: 23 October 2019

Primary mitochondrial diseases are a heterogeneous group of disorders that result from defects of the oxidative phosphorylation system of the mitochondria. Mitochondrial diseases are relatively common, though often underrecognized, with an estimated incidence of 1 in 10,000 live births. Mitochondria are double-membrane–bound cytoplasmic organelles whose primary function is to provide energy (ie, adenosine triphosphate) from the breakdown of carbohydrates, protein, and lipids by means of the electron transport chain and the oxidative phosphorylation system.

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