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2 patient data entries collated from reference Pelayo-Negro et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 343 | W748S5
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 51 | 30 | n/a | | 344 | A467T2
| W748S5
| ataxia, sensory neuropathy, dysarthria, and external ophthalmoparesis | | - | movement disorder (ataxia) | |
| | 50 | 30 | 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.
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