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6 patient data entries in database for clusters G737R and 1. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 152 | A957V1
| G737R5
| Deceased at 9 months. 30% mtDNA copy number in muscle, 30% mtDNA copy number in blood, 10% mtDNA copy number in liver. | | | n/a | 0.4 | 0.8 | Tang et al, 2011; [view data] | | 153 | V855L1
| G737R5
| Hypoglycaemia, liver failure, seizures, developmental delay. 65% mtDNA copy number in muscle, ETC low. | | | n/a | 0.8 | n/a | Tang et al, 2011; [view data] | | 74 | G737R5
| G426S1
| Seizures, intractable seizures, abnormal EEG, abnormal MRI. 135% mtDNA copy number in blood. | | | n/a | 11 | n/a | Tang et al, 2011; [view data] | | 154 | R943C1
E1143G
| G737R5
| Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy. | | | 3 | n/a | n/a | Wong et al, 2008; [view data] | | 190 | G737R5
| R853W1
| Migraines in childhood, In 20s presented with peripheral sensory neuropathy and parkinsonisms. | | | n/a | n/a | n/a | Davidzon et al, 2006; [view data] | | 669 | R853W1
| G737R5
| parkinsonism with dystonic toe and plantar flexion. Anxiety and generalized muscle weakness. Bilateral hypaesthesia of the lateral bottom of the foot and dorsal forefoot as well as bilateral distal pallhypaesthesia of the legs. Slight bilateral ptosis, slight axonal sensory polyneuropathy. | | | 27 | 32 | n/a | Rempe et al, 2016; [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: 6
Avg age of onset in displayed cases: 8.4
Std dev in onset in displayed cases: 10.0
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