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1 patient data entry in database for mutations R807C,P648R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 696 | | P648R5
R807C3
| progressive bilateral ptosis, unsteadiness gait and muscles weakness at the age of 39 and developed dysphagia and diplopia 3 years later. bilateral blepharoptosis, external ophthalmoparesis with diplopia on horizontal gaze, dysarthria and dysphagia at 44. distal limb muscles weakness, with depressed deep tendon reflexes, and impaired proprioception and vibration sense. Positive Romberg sign. axonal sensory polyneuropath, SANDO. parkinsonism, with hand rest tremor, moderate limb bradykinesia, cogwheel rigidity and hypomimic face. Multiple mtDNA deletions were detected. | | | 39 | 52 | n/a | Miguel et al, 2014; [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.
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