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1 patient data entry collated from reference Lam et al, 2015. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 691 | W748C5
| R309C3
| mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). She first presented at 10 y with sudden onset of headache, repeated focal seizures and visual loss, complicated with residual sensory neuropathy and motor neuropathy, ophthalmoparesis (ophthalmoplegia) and cortical blindness. Extensive cytotoxic edema and ischemia in bilateral parietal–occipital lobes. recurrent seizure attacks and hemiparesis. | | | 18 | 10 | 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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