2 patient data entries in database for clusters G737R and 1 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 | | 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] |
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: 2 Avg age of onset in displayed cases: 0.6 Std dev in onset in displayed cases: 0.2
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