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2 patient data entries in database for clusters A467T and 5 in age group "infantile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 141 | A467T2
| P625R5
| Seizures onset at age 1, death via VPA induced liver failure at age 2. | | | 1 | n/a | 2 | Baruffini et al, 2011; [view data] | | 178 | A467T2
| F749S5
| Authors report N/A. 6% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang 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: 0.9
Std dev in onset in displayed cases: 0.1
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