eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | mitochondrial complex iv deficiency |
| Comorbidity | C0023264|leigh syndrome |
| Sentences | 2 |
| PubMedID- 19616603 | Methods: in an attempt to circumvent the mitochondrial dysfunction, we orally applied sodium pyruvate and analyzed its effect on an 11-year-old female with leigh syndrome due to cytochrome c oxidase deficiency accompanied by cardiomyopathy. |
| PubMedID- 21266382 | Lrpprc mutations cause a phenotypically distinct form of leigh syndrome with cytochrome c oxidase deficiency. |
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