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6 patient data entries in database for mutation S305R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 64 | R627Q5
| S305R3
| generalized seizures and myoclonic jerks at age 5, ataxia and sensory-axonal peripheral neuropathy onset in teen years. | | - | movement disorder (ataxia) | |
| | 5 | 25 | n/a | Baruffini et al, 2011; [view data] | | 65 | A467T2
| S305R3
| Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 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] | | 642 | | S305R3
| developmental delay, dementia, lactic acidosis, alpers | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 660 | P1073L3
| S305R3
| Alpers | | | 0.75 | n/a | 2 | Baruffini 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: 6
Number of patient cases marked as outliers: 1 (cases excluded from avg: 642)
Avg age of onset in displayed cases: 2.8
Std dev in onset in displayed cases: 1.7
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