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3 patient data entries in database for clusters G737R 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 | | | 74 | G737R5
| G426S1
| Seizures, intractable seizures, abnormal EEG, abnormal MRI. 135% mtDNA copy number in blood. | | | n/a | 11 | n/a | Tang et al, 2011; [view data] | | 154 | R943C1
E1143G
| G737R5
| Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy. | | | 3 | n/a | n/a | Wong et al, 2008; [view data] | | 190 | G737R5
| R853W1
| Migraines in childhood, In 20s presented with peripheral sensory neuropathy and parkinsonisms. | | | n/a | n/a | n/a | Davidzon et al, 2006; [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: 7.0
Std dev in onset in displayed cases: 4.0
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