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2 patient data entries collated from reference Paus et al, 2008. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 412 | A467T2
| W748S5
| episodic headache, cognitive decline, and seizures, repeatedly resulting in generalized status epilepticus, ataxia, sensorimotor peripheral neuropathy, dysarthria, PEO with diplopia, mild bilateral ptosis, epilepsy, cognitive impairment, myoclonus, | | - | movement disorder (ataxia) | |
| | 39 | 28 | n/a | | 413 | A467T2
| W748S5
E1143G
| Presented with PEO, mild bilateral ptosis, dysarthria, ataxia, and neuropathy | | - | movement disorder (ataxia) | |
| | 37 | 36 | 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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