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3 patient data entries in database for clusters P587L and 1 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 | | | 48 | N1157S1
| T251I
P587L2
| N/A (as reported in Tang 2011 JMG) | | | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 421 | D1184N1
| T251I
P587L2
| Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver | | - | movement disorder (ataxia) | |
| | 9 | n/a | 33 | Amiot et al, 2009; [view data] | | 422 | D1184N1
| T251I
P587L2
| Peripheral neuropathy, PEO, fatty liver | | | 9 | n/a | 30 | Amiot et al, 2009; [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: 9.0
Std dev in onset in displayed cases: 0.0
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