eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | mitochondrial complex iv deficiency |
| Comorbidity | C0162666|mitochondrial encephalomyopathy |
| Sentences | 3 |
| PubMedID- 24956508 | mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the mtco1 gene. |
| PubMedID- 24397103 | Leigh syndrome is a mitochondrial encephalomyopathy that occurs due to "cytochrome c oxidase deficiency" characterized by psychomotor retardation, difficulty in eating, seizures, hypotonia, respiratory disorders and high lactate levels. |
| PubMedID- 24598864 | Mutation in cox6b1 causes mitochondrial encephalomyopathy due to cox deficiency [37]. |
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