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4 patient data entries collated from reference McCoy et al, 2011. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 327 | L966R1
| A467T2
| focal seizures, elevated blood lactate, elevated liver enzymes, Elevated CSF protein, severe lactic acidosis, severe encephalopathy, Death occurred ten days after admission | | | n/a | 1.42 | 1.42 | | 328 | G848S1
| A467T2
| focal seizures, elevated liver transaminases, Elevated CSF protein, patient died several weeks later | | | n/a | 0.8 | 1 | | 329 | R852C1
| A467T2
| clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy, | | | n/a | 1.75 | 3.5 | | 330 | C418R1
| A467T2
| presented in status epilepticus, with a 24 h history of lethargy and vomiting, ataxia diagnosed at 17 months, diffuse encephalopathy, | | - | movement disorder (ataxia) | |
| | n/a | 1.42 | 3.58 |
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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