Article
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Journal of inherited metabolic disease - 1 Nov 2024
Čunátová Kristýna, Fernández-Vizarra Erika
Abstract excerpt
Mitochondrial disorders are a group of clinically and biochemically heterogeneous genetic diseases within the group of inborn errors of metabolism. Primary mitochondrial diseases are mainly caused by defects in one or several components of the oxidative phosphorylation system (complexes I-V). Within these disorders, those associated with complex III deficiencies are the least common. However, thanks to a deeper...
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