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3 patient data entries collated from reference Ylönen et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 584 | W748S5
E1142G
| T251I
P587L2
| Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers. | | | 65 | 49 | n/a | | 585 | R993C
| W748S5
E1143G
| late-onset parkinsons. Tremor. Cardiac arrhythmia. | | | n/a | 72 | n/a | | 586 | R722H
| Y831C
| late onset parkinsons. Tremor. Hyperreflexia. | | | n/a | 56 | 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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