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1 patient data entry collated from reference Mancuso et al, 2004a. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 202 | G1051R3
| H932Y1
| PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 35 | 18 | 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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