|
1 patient data entry collated from reference Sato et al, 2011. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 331 | R943C1
| H277L3
| left dominant hemi-parkinsonian features, bradykinesia, gait disturbance, resting tremor and postural instability, chronic progressive external ophthalomoplegia among mitochondrial myopathies | | - | movement disorder (ataxia) | |
| | 78 | 50 | n/a |
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.
|