|
7 patient data entries in database for clusters P587L and 3 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 | | | 42 | L304R3
| P587L2
T251I
| PEO, myopathy, ataxia. | | - | movement disorder (ataxia) | |
| | 45 | 74 | n/a | Horvath et al, 2006; [view data] | | 43 | L304R3
| T251I
P587L2
| PEO, Neuropathy. Affect sibling. | | | 60 | 68 | n/a | Horvath et al, 2006; [view data] | | 45 | R807P3
| T251I
P587L2
| PEO | | | 46 | 47 | n/a | Di Fonzo et al, 2003; [view data] | | 46 | R807P3
| P587L2
T251I
| PEO, dysphagia | | | 45 | 52 | n/a | Di Fonzo et al, 2003; [view data] | | 47 | R807P3
| T251I
P587L2
| PEO, axonal sensorimotor polyneuropathy | | - | axonal sensorimotor polyneuropathy | |
| | 60 | 71 | n/a | Di Fonzo et al, 2003; [view data] | | 601 | R807P3
| T251I
P587L2
| PEO, complicated by dysphagia, myopathy. | | | n/a | 71 | n/a | Del Bo et al, 2003; [view data] | | 603 | R309L3
| T251I
P587L2
| PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle. | | | n/a | n/a | n/a | Lamantea et al, 2002; [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: 7
Avg age of onset in displayed cases: 54.5
Std dev in onset in displayed cases: 9.9
|