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3 patient data entries in database for clusters 3 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 | | | 67 | R627Q5
| R309H3
| Onset at 0.5 years with encephalopathy and hepatopathy. Diagnosed as alpers. Death at 1.3 years | | | 0.5 | n/a | 1.3 | Horvath et al, 2006; [view data] | | 159 | R807C3
| W748S5
E1143G
| epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle. | | | 1 | n/a | 3 | Isohanni et al, 2011; [view data] | | 177 | P1073L3
| W748S5
| Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation. | | | 0.01 | n/a | 13 | Kurt et al, 2010; [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: 0.5
Std dev in onset in displayed cases: 0.4
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