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4 patient data entries in database for mutation W312R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 68 | R574W2
| W312R3
| PEO +dysphagia/myopathy. | | | 37 | n/a | n/a | Horvath et al, 2006; [view data] | | 69 | W312R3
| W312R3
| PEO, sensory-motor polyneuropathy, dysphagia. | | | 57 | n/a | n/a | Di Fonzo et al, 2003; [view data] | | 599 | W312R3
| W312R3
| PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia. | | - | axonal sensorimotor polyneuropathy | |
| | n/a | 57 | n/a | Del Bo et al, 2003; [view data] | | 622 | | W312R3
| PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 39 | n/a | n/a | Agostino et al, 2003; [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: 4
Avg age of onset in displayed cases: 47.5
Std dev in onset in displayed cases: 9.5
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