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2 patient data entries collated from reference Mukai et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 525 | | Y955C1
| gait instability, mild parkinsonian features, including cogwheel rigidity and bradykinesia. ragged-red fibers, decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. PEO. | | | 69 | 65 | n/a | | 526 | | Y955C1
| rigidity with cogwheel phenomenon, bradykinesia, resting tremor and postural instability. Ragged-red fibers as well as fibers with increased subsarcolemmal succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. Parkinsons. PEO. | | | 73 | 60 | 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.
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