|
3 patient data entries in database for mutation R943H. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 204 | | R943H1
| Age 71 with CPEO and premature ovarian failure. | | | n/a | 71 | n/a | Blok et al, 2009; [view data] | | 444 | | R943H1
| At age 63: CPEO, ptosis, congenital cataracts, vision loss with macular degeneration, hearing loss, dysarthria, dysphagia, sensorimotor polyneuropathy, fatigue, migraine, cardiomyopathy and depression. At age 67, he developed asymmetric resting tremor and impaired balance. Examination at age 71 revealed CPEO, facial diplegia, mild symmetric rigidity, intermittent, pre- dominantly right-sided resting tremor and multidirectional head tremor, bradykinesia, and ataxic gait (broad based stance with inability to tandem). Brain MRI showed mild atrophy and very subtle multifocal subcortical white matter lesions. | | - | movement disorder (ataxia) | |
| - | axonal sensorimotor polyneuropathy | |
| | 63 | 71 | n/a | Brandon et al, 2013; [view data] | | 608 | | R943H1
| adPEO. | | | n/a | 50 | n/a | Lamantea et al, 2002; [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: 61.3
Std dev in onset in displayed cases: 8.7
|