|
2 patient data entries in database for clusters P587L and W748S in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 35 | W748S5
| T251I
P587L2
| PEO, ptosis, muscle fatigue, diplopia, a mild external ophthalmoplegia affecting horizontal, but not vertical gaze. Tendonreflexes were diminished in the lower extremities and a distal sensory defect in stocking distribution was seen. | | - | external ophthalmoplegia | |
| | 45 | 50 | n/a | Tzoulis et al, 2009; [view data] | | 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. | | | 49 | 65 | n/a | Ylönen et al, 2013; [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: 2
Avg age of onset in displayed cases: 47.0
Std dev in onset in displayed cases: 2.0
|