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24 patient data entries in database for clusters A467T and 3. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 53 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 1 | n/a | 1.4 | Tzoulis et al, 2010; [view data] | | 659 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.42 | Baruffini et al, 2011; [view data] | | 658 | A467T2
| G303R3
| Alpers | | | n/a | n/a | 0.92 | Baruffini et al, 2011; [view data] | | 558 | G303R3
| A467T2
| Epilepsy, stroke-like episode, Ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2014; [view data] | | 557 | G303R3
| A467T2
| Epilepsy, stroke-like episode. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2014; [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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 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] | | 54 | A467T2
| G303R3
| Encephalopathy with epilepsy, ataxia. | | - | movement disorder (ataxia) | |
| | 2 | n/a | 8 | Tzoulis et al, 2010; [view data] | | 52 | A467T2
| G303R3
| Encephalopathy with epilepsy, and liver disease. | | | 0.9 | n/a | 1.1 | Tzoulis et al, 2010; [view data] | | 66 | A467T2
| S305R3
| Alpers, died at age four. Sister also died at age 4 . | | | n/a | n/a | 4 | Blok et al, 2009; [view data] | | 322 | S305R3
| A467T2
| Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers | | | 3 | n/a | 3.67 | Hunter et al, 2011; [view data] | | 355 | R1096C3
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change | | | 17 | 42 | n/a | Lax et al, 2012a; [view data] | | 59 | A467T2
| L304R3
| myopathy, PEO, dysarthria. | | | 16 | n/a | 37 | Van Goethem et al, 2003a; [view data] | | 569 | L304R3
| A467T2
| psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia. | | | 16 | 28 | n/a | Van Goethem et al, 2001; [view data] | | 234 | A467T2
| G268A3
| PEO, age of onset 65 years. | | | 65 | n/a | n/a | Di Fonzo et al, 2003; [view data] | | 292 | R275Q3
| A467T2
| presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 30 | 63 | n/a | Echaniz-Laguna et al, 2010; [view data] | | 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | 25 | n/a | n/a | Van Goethem et al, 2003a; [view data] | | 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 25 | 38 | n/a | Van Goethem et al, 2001; [view data] | | 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 24 | 34 | n/a | Van Goethem et al, 2001; [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: 24
Avg age of onset in displayed cases: 9.9
Std dev in onset in displayed cases: 15.1
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