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1 patient data entry collated from reference Bandettini di Poggio et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 583 | A899T
| A899T
| sensory ataxic neuropathy, dysarthria, and cophthalmoparesis (SANDO). Dopamine-agonist responsive Parkinsonism. bilateral PEO and ptosis. Healthy until the age of 26. myopathic features. demyelinating sensorymotor neuropathy. Anxiety-mood disorders. cytochrome c oxidase negative muscle fibers. ataxic gait and positive Romberg sign. tremor. | | - | movement disorder (ataxia) | |
| | 48 | 26 | 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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