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1 patient data entry in database for clusters G737R and 4 in age group "childhood". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 20 | G737R5
| R232H4
S64L
| Peripheral neuropathy, tremor, ataxia. | | - | movement disorder (ataxia) | |
| | 10 | n/a | n/a | Harrower et al, 2008; [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.
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