eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | encephalopathy |
| Comorbidity | C0022658|nephropathy |
| Sentences | 2 |
| PubMedID- 25802402 | Mutations in coq biosynthetic genes produce primary coq10 deficiency, a mitochondrial syndrome with five major clinical presentations: (i) encephalomyopathy with brain involvement and recurrent myoglobinuria; (ii) infantile multisystem disorder with encephalopathy usually associated with nephropathy and variable involvement of other organs; (iii) ataxic syndrome with cerebellar atrophy; (iv) isolated myopathy; and (v) steroid-resistant nephrotic syndrome (emmanuele et al, 2012). |
| PubMedID- 20689595 | The disorder manifests clinically with four major phenotypes: 1) an encephalomyopathy with brain involvement and recurrent myoglobinuria [7]; 2) an infantile multisystem disorder with encephalopathy usually associated with nephropathy and variable involvement of other organs [8], [9]; 3) ataxic syndrome with cerebellar atrophy [10], [11]; and 4) an isolated myopathy [12], [13]. |
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