|
2 patient data entries collated from reference Filosto et al, 2003. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 136 | A889T1
| R579W2
| Onset at age 30 with ptosis, later development of ataxia orthostatic dizziness, cataracts, GI dysmotility with diarrhea and constipation. | | - | movement disorder (ataxia) | |
| | n/a | 30 | n/a | | 217 | | G1076V3
| PEO at age 41, mental retardation at age 4. Progressive bilateral ptosis. Her father and paternal grandmother had long standing historier of bilaterally impaired eye movements. Patients brother and daughter (at 7) are healthy. | | | 51 | 41 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
|