1 patient data entry in database for the exact mutation R953C. Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 500 | | R953C1
| PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance. | - | movement disorder (ataxia) | |
| | 22 | 29 | n/a | Luoma et al, 2004; [view data] |
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.
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