|
2 patient data entries in database for clusters 1 and 3 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 10 | L304R3
| A143V1
| Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood. | | | n/a | 22 | n/a | Tang et al, 2011; [view data] | | 202 | G1051R3
| H932Y1
| PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 18 | 35 | n/a | Mancuso et al, 2004a; [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: 20.0
Std dev in onset in displayed cases: 2.0
|