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14 patient data entries in database for clusters 2 and 3 in age group "infantile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 52 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2010; [view data] | | 53 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 1 | n/a | 1.4 | Tzoulis et al, 2010; [view data] | | 54 | A467T2
| G303R3
| Encephalopathy with epilepsy, ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2010; [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] | | 91 | P1073L3
| A467T2
| Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss. | | | 0.01 | n/a | 0.8 | Kurt et al, 2010; [view data] | | 92 | P1073L3
| A467T2
| Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy. | | | 0.01 | n/a | 3 | Kurt et al, 2010; [view data] | | 93 | S1095R3
| A467T2
| Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present. | | - | abnormal muscle histology | |
| - | delayed gastric emptying | |
| | 0.333 | n/a | 0.583 | Tang et al, 2011; [view data] | | 94 | R807C3
| A467T2
| Encephalopathy/dementia, liver failure, cholestasis, lactic acidosis, altered mental status. 47% mtDNA copy number in muscle, 8% mtDNA copy number in liver, ETC low. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 95 | R807H3
| A467T2
| Developmental delay, hypotonia, seizures, hepatic failure, elevated transaminases, renal tubular disease, failure to thrive. 18% mtDNA copy number in blood. | | | n/a | 1 | n/a | Tang et al, 2011; [view data] | | 544 | G303R3
| A467T2
| Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction, | | | 0.916 | n/a | n/a | Sofou et al, 2012; [view data] | | 557 | G303R3
| A467T2
| Epilepsy, stroke-like episode. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2014; [view data] | | 558 | G303R3
| A467T2
| Epilepsy, stroke-like episode, Ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2014; [view data] | | 658 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.92 | Baruffini et al, 2011; [view data] | | 659 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.42 | 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: 14
Avg age of onset in displayed cases: 0.9
Std dev in onset in displayed cases: 0.6
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