3 patient data entries in database for the exact mutation R232H. Entry # | Mutations | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | 433 | | R232H4
| Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism. | - | movement disorder (ataxia) | |
- | axonal sensorimotor polyneuropathy | |
| | 25 | n/a | n/a | Rouzier et al, 2013; [view data] | 434 | | R232H4
| Axonal sensorimotor neuropathy | - | axonal sensorimotor polyneuropathy | |
| | 30 | n/a | n/a | Rouzier et al, 2013; [view data] | 435 | | R232H4
| Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter. | - | movement disorder (ataxia) | |
- | demyelinating neuropathy | |
- | axonal sensorimotor polyneuropathy | |
| | 20 | n/a | n/a | Rouzier et al, 2013; [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. Number of displayed patient cases: 3 Avg age of onset in displayed cases: 25.0 Std dev in onset in displayed cases: 4.1
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