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2 patient data entries in database for clusters 2 and 3 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 | | | 66 | A467T2
| S305R3
| Alpers, died at age four. Sister also died at age 4 . | | | n/a | n/a | 4 | Blok et al, 2009; [view data] | | 322 | S305R3
| A467T2
| Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | | 3 | n/a | 3.67 | Hunter et al, 2011; [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: 2
Avg age of onset in displayed cases: 3.5
Std dev in onset in displayed cases: 0.5
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