|
3 patient data entries in database for mutations R627Q and R852C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 146 | R852C1
G11D
| R627Q5
| Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood. | | | n/a | 25 | n/a | Tang et al, 2011; [view data] | | 625 | G11D
R627Q5
| R852C1
| Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | | - | movement disorder (ataxia) | |
| | 15 | 19 | n/a | Wong et al, 2008; [view data] | | 628 | G11D
R627Q5
| R852C1
| Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | | - | movement disorder (ataxia) | |
| | 15 | n/a | n/a | Wong et al, 2008; [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: 3
Avg age of onset in displayed cases: 18.3
Std dev in onset in displayed cases: 4.7
|