|
4 patient data entries in database for mutation R953C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 166 | R953C1
| W748S5
| Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 51 | n/a | Tang et al, 2011; [view data] | | 337 | R953C1
| R953C1
| gait abnormalities and PEO, cognitive impairment and depressive and psychotic symptoms, masked face, bradykinesia, action tremor, stooped posture, rigidity, complete ophthalmoplegia, and mild proximal limb weakness, sensory polyneuropathy, myopathy, mild cardiomyopathy, Multiple mtDNA deletions in muscle | | | 20 | 35 | n/a | Gurgel-Giannetti et al, 2012; [view data] | | 346 | R953C1
| W748S5
| Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy | | | n/a | 50 | n/a | Tang et al, 2012; [view data] | | 500 | | R953C1
| PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance. | | - | movement disorder (ataxia) | |
| | 22 | 29 | n/a | Luoma et al, 2004; [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: 35.8
Std dev in onset in displayed cases: 14.8
|