eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kennedy disease |
| Comorbidity | C0751651|mitochondrial disorders |
| Sentences | 5 |
| PubMedID- 23665194 | The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. |
| PubMedID- 25741868 | Consideration should be given to testing nuclear genes associated with mitochondrial disorders, as variants in nuclear genes could be causative of oxidative disorders or modulating the mitochondrial variants. |
| PubMedID- 22729855 | The recent discovery of several oxphos-related human genes, mutated in different clinical syndromes, indicates that the majority of the inherited mitochondrial disorders are due to nuclear genes, and many of them encode proteins necessary for the proper assembly/stability of the mrc complexes. |
| PubMedID- 23244780 | However, evaluating mtdna disorders is an area of research where mtgenomics and nuclear genomics could be applied in conjunction since a considerable number of mitochondrial disorders are associated with nuclear genetic inheritance. |
| PubMedID- 23245551 | The majority of primary mitochondrial disorders are due to nuclear gene mutations, not aberrations within the mitochondrial genome. |
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