eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | optic atrophy 1 |
| Comorbidity | C0524851|neurodegenerative disorders |
| Sentences | 2 |
| PubMedID- 23285122 | Interestingly, mutations in fusion components are linked to neurodegenerative disorders with opa1 mutations causative for dominant optic atrophy [18] and mutations in mfn2 linked to charcot-marie-tooth type 2a disease, a peripheral neuropathy sometimes accompanied by optic degeneration and hearing loss [19]. |
| PubMedID- 21031019 | Moreover, mutations in mitochondrial proteins (e.g., dynamin-like guanosine triphosphatase [gtpase] optic atrophy 1 [opa1]) are associated with optic neurodegenerative disorders [143]. |
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