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1 patient data entry collated from reference Khan et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 340 | C1188R1
| A467T2
| developmental delay, prolonged generalized seizure, hypotonia, epilepsia partialis continua, congestive heart failure, respiratory difficulty, autopsy showed enlarged and yellow liver, symmetrical but multifocal ischemic encephalopathy with laminar necrosis and neuronal degeneration in the cerebral cortex, Mitochondrial DNA copy number in blood was 43% of control values | | | n/a | 0.75 | 1.17 |
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.
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