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21 patient data entries in database for clusters 3 and 3. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 50 | L304R3
| L304R3
| Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver. | | | n/a | 4 | n/a | Tang et al, 2011; [view data] | | 683 | R1096C3
| R1096C3
| Epilepsy, Cellular depletion, Hepatopathy | | | 0.42 | n/a | n/a | Ashley et al, 2008; [view data] | | 660 | P1073L3
| S305R3
| Alpers | | | 0.75 | n/a | 2 | Baruffini et al, 2011; [view data] | | 640 | Q1236H
R1096C3
| R1096C3
Q1236H
| developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 587 | R1096C3
| R1096C3
| Alpers. Multifocal therapy-refractory epilepsy. hippocampal sclerosis. COX-negative fibers, reduced mtDNA copy number. mtDNA deletions. | | | n/a | 1 | n/a | Stewart et al, 2011; [view data] | | 477 | R1096C3
| R1096C3
| altered sensorium, seizures (requiring ventilation and critical-care management), hypotonia and mild hepatomegaly. Child deteriorated rapidly because of liver failure and died within two weeks of admission. Mainly hepatic failure and central nervous system (CNS) involvement (encephalopathy, seizures), high plasma lactate levels – and family history, a clinical diagnosis of mitochondrial disorder of the mtDNA depletion (Alpers – Huttenlocher syndrome or Pyruvate carboxylase deficiency) was made. mtDNA depletion syndrome. | | | 0.3 | 0.6 | 0.6 | Bijarnia-Mahay et al, 2014; [view data] | | 226 | Q1236H
R1096C3
| Q1236H
R1096C3
| Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers. | | | 2 | n/a | n/a | Horvath et al, 2006; [view data] | | 223 | R1096C3
| R1096C3
| Seizures, liver failure. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 224 | R1096C3
| R1096C3
| Developmental delay, seizure, lactic acidosis, elevated transaminases. 50% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 225 | R1096C3
| R1096C3
| Seizures, dementia/encephalopathy. 56% mtDNA copy number in blood. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 685 | L304R3
| L304R3
| Relatively Mild phenotype | | | 10 | n/a | n/a | Ashley et al, 2008; [view data] | | 63 | R1081P3
| L304R3
| Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 10 | n/a | Tang et al, 2011; [view data] | | 57 | L304R3
| L304R3
| Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood. | | | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 56 | L304R3
| L304R3
| Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood. | | | n/a | 12 | n/a | Tang et al, 2011; [view data] | | 55 | L304R3
| L304R3
| CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| | n/a | 9 | n/a | Tang et al, 2011; [view data] | | 51 | L304R3
| L304R3
| CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 10 | n/a | Tang et al, 2011; [view data] | | 418 | R309C3
| R309C3
| Peripheral neuropathy, PEO, ataxia, myopathy, fatty liver, pigmentary neuropathy, strokes, epilepsy, dysarthria-dysphonia | | - | movement disorder (ataxia) | |
| | 14 | n/a | 22 | Amiot et al, 2009; [view data] | | 58 | L304R3
| L304R3
| Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood. | | - | abnormal muscle histology | |
| | n/a | 23 | n/a | Tang et al, 2011; [view data] | | 69 | W312R3
| W312R3
| PEO, sensory-motor polyneuropathy, dysphagia. | | | 57 | n/a | n/a | Di Fonzo et al, 2003; [view data] | | 598 | G268A3
| G268A3
| PEO, complicated by dysphagia, my- opathy, neuropathy pigmentary retinopathy and amenorrhea. | | | n/a | 32 | n/a | Del Bo et al, 2003; [view data] | | 599 | W312R3
| W312R3
| PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia. | | - | axonal sensorimotor polyneuropathy | |
| | n/a | 57 | n/a | Del Bo et al, 2003; [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: 21
Avg age of onset in displayed cases: 12.2
Std dev in onset in displayed cases: 16.6
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