|
3 patient data entries in database for clusters 3 and 5 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 | | | 64 | R627Q5
| S305R3
| generalized seizures and myoclonic jerks at age 5, ataxia and sensory-axonal peripheral neuropathy onset in teen years. | | - | movement disorder (ataxia) | |
| | 5 | 25 | n/a | Baruffini et al, 2011; [view data] | | 143 | R1096H3
| R627Q5
| Onset at 7 years with encephalopathy, hepatopathy, and SLE seizures. Diagnosed as alpers. Death at 8 years. | | | 7 | n/a | 8 | Horvath et al, 2006; [view data] | | 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. | | | 10 | 18 | n/a | Lam et al, 2015; [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: 7.3
Std dev in onset in displayed cases: 2.1
|