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2 patient data entries collated from reference Lax et al, 2012b. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 516 | W748S5
| A467T2
| Ataxia, Epilepsy, Dementia, Encephalopathy, Myoclonus, Fatigue, Depression, Dysarthria, Cardiac failure, cardiomyopathy, Diabetes, arPEO, Ischemic heart disease. | | - | movement disorder (ataxia) | |
| | 24 | 20 | n/a | | 517 | S1104C1
| G848S1
| Ataxia, Dementia, Peripheral neuropathy, Areflexia, Myopathy, fatigue, depression, Ophthalmoplegia, Dysarthria, Osteoporosis, arPEO. | | - | movement disorder (ataxia) | |
| | 59 | 22 | 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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