eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | mitochondrial complex iv deficiency |
| Comorbidity | C0020255|hydrocephalus |
| Sentences | 1 |
| PubMedID- 24781756 | We hereby report a case of isolated cox deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p.r20c mutation in the cox6b1 gene, which encodes an integral, nuclear-encoded cox subunit. |
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