Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies (Q87784): Difference between revisions

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Latest revision as of 13:42, 15 August 2026

Mitochondrial disorders of nuclear DNA (nDNA) origin include oxidative phosphorylation (OXPHOS) disorders (such as Leigh syndrome, paraganglioma), defects in nuclear-encoded mitochondrial proteins for mtDNA integrity (progressive external ophthalmoplegia (PEO) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome), and mitochondrial disorders with secondary effects on the OXPHOS system (Friedreich ataxia and hereditary spastic paraplegia).

Language	Label	Description	Also known as
default for all languages	ID_1424131741
English	Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies	Mitochondrial disorders of nuclear DNA (nDNA) origin include oxidative phosphorylation (OXPHOS) disorders (such as Leigh syndrome, paraganglioma), defects in nuclear-encoded mitochondrial proteins for mtDNA integrity (progressive external ophthalmoplegia (PEO) and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome), and mitochondrial disorders with secondary effects on the OXPHOS system (Friedreich ataxia and hereditary spastic paraplegia).