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9 patient data entries in database for clusters A467T 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 | | | 73 | A467T2
| C418R1
| Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia). | | - | movement disorder (ataxia) | |
| | 3 | n/a | n/a | Ashley et al, 2008; [view data] | | 101 | T914P1
| A467T2
| Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 103 | T914P1
| A467T2
| Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 104 | T914P1
| A467T2
| Onset at 4 years with encephalopathy, myoclonus, and SLE. | | | 4 | 8 | n/a | Horvath et al, 2006; [view data] | | 106 | L966R1
| A467T2
| Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy. | | | 4 | n/a | n/a | Ashley et al, 2008; [view data] | | 107 | C1188R1
| A467T2
| Developmental delay, seizures, abnormal MRI, hypotonia, low in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 311 | G848S1
| A467T2
| Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements | | | 6 | 11 | n/a | Saneto et al, 2010; [view data] | | 536 | S1104F1
| A467T2
| Epilepsy, Ataxia, Myopathy. | | - | movement disorder (ataxia) | |
| | n/a | 5 | n/a | Sitarz et al, 2014; [view data] | | 632 | G848S1
| A467T2
| Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance | | - | movement disorder (ataxia) | |
| | 9 | n/a | n/a | Wong et al, 2008; [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: 9
Avg age of onset in displayed cases: 4.7
Std dev in onset in displayed cases: 1.8
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