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1 patient data entry collated from reference Verhoeven et al, 2011. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 332 | | N736S
| progressive gait instability, mild ataxia, recurrent depressive symptoms, bilateral subcapsular posterior cataract, domestic neglect, inactivity, paranoid ideation, and symptoms of major depression with melancholic features, bilateral ataxia and a slightly dysarthric speech, fatigue and shortness of breath, progressive cerebellar ataxia with bilateral pyramidal syndrome and cardiomyopathy, present for over a decade, was given | | - | movement disorder (ataxia) | |
| | 52 | n/a | 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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