Mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies (Q87784): Difference between revisions
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Distúrbios mitocondriais de origem no DNA nuclear (nDNA) incluem distúrbios de fosforilação oxidativa (OXPHOS) (como a síndrome de Leigh, paraganglioma), defeitos em proteínas mitocondriais codificadas pelo núcleo para integridade do mtDNA (oftalmoplegia externa progressiva (PEO) e encefalomiopatia mitocondrial neurogastrointestinal ) além de distúrbios mitocondriais com efeitos secundários no sistema OXPHOS (ataxia de Friedreich e paraplegia espástica hereditária). | |||
| description / en | description / en | ||
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). | |||
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 |
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| 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). |
