|
15 patient data entries in database for mutations T914P and A467T. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 97 | T914P1
| A467T2
| Developmental delay, hypotonia, seizures, myoclonic seizures, hemiparesis, intractable seizure, elevated transaminases, FTT, lactic acidosis, high CSF lactate, elevated pyruvate, high CSF protein, dementia/encephalopathy. 112% mtDNA copy number in muscle, 63% mtDNA copy number in blood. | | | n/a | 0.9 | n/a | Tang et al, 2011; [view data] | | 98 | T914P1
| A467T2
| Onset 2 years with dementia, seizures, and liver failure. Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 99 | T914P1
| A467T2
| Onset at 9 months with alpers, death at 12 months. 8% mtDNA copy number in liver, 8% mtDNA copy number in muscle. | | | 0.8 | n/a | 1 | Taanman et al, 2009; [view data] | | 100 | T914P1
| A467T2
| Developmental delay, seizures, myoclonic seizures, intractable seizure, respiratory deficiency/failure, abnormal EEG, abnormal MRI. 60% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 101 | T914P1
| A467T2
| Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood. | | | n/a | 3 | n/a | Tang et al, 2011; [view data] | | 102 | T914P1
| A467T2
| Seizures, hepatic failure, duplicated cyst of ileum, FTT, diarrhea. 13% mtDNA copy number in liver. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 103 | T914P1
| A467T2
| Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood. | | | n/a | 5 | n/a | Tang et al, 2011; [view data] | | 104 | T914P1
| A467T2
| Onset at 4 years with encephalopathy, myoclonus, and SLE. | | | 4 | 8 | n/a | Horvath et al, 2006; [view data] | | 105 | T914P1
| A467T2
| Onset at 1.5 years with encephalopathy and hepatopathy and cortical blindness. Diagnosed as Alpers. | | | 1.5 | 2 | n/a | Horvath et al, 2006; [view data] | | 198 | A467T2
| T914P1
| reported as Alpers, onset at 7 months, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 39% mtDNA copy number in muscle. | | - | movement disorder (ataxia) | |
| | 0.58 | n/a | n/a | Ashley et al, 2008; [view data] | | 200 | A467T2
| T914P1
| Epilepsy, myoclonus, and developmental delay. | | | n/a | 1 | n/a | Blok et al, 2009; [view data] | | 265 | T914P1
| A467T2
| Alpers | | | n/a | n/a | n/a | Nguyen et al, 2006; [view data] | | 445 | T914P1
| A467T2
| myoclonic status epilepticus, myoclonic seizures at 8 months, developmental regression, febrile upper respiratory tract infection, nearly continuous myoclonic jerks, normocephalic, nondysmorphic, diffuse hypotonia, died secondary to complications of hepatic failure. | | | 0.8 | n/a | 1 | Dhamija et al, 2011; [view data] | | 638 | T914P1
| A467T2
| Developmental delay, dementia, seizures, Alpers | | | 2 | n/a | n/a | Wong et al, 2008; [view data] | | 688 | T914P1
| A467T2
| Hepatopathy | | | 15 | n/a | n/a | Ashley et al, 2008; [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: 15
Avg age of onset in displayed cases: 3.0
Std dev in onset in displayed cases: 3.6
|