eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | optic atrophy 1 |
| Comorbidity | C0026769|multiple sclerosis |
| Sentences | 1 |
| PubMedID- 20157015 | Based upon recent epidemiological data (fox et al., 2004), we estimate the chance finding of an opa1 mutation in a patient with multiple sclerosis in the uk at 1 in 41 million (95% ci = 25–73 million), and of note, this association has already been reported in a 44-year-old man with gait ataxia and lower-limb spasticity (fr-11), who had mri and csf changes consistent with a demyelinating process, and a novel c.1937c > t (p.s646l) missense mutation in the dynamin region the opa1 gene (verny et al., 2008). |
Page: 1