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1 patient data entry collated from reference Gurgel-Giannetti et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 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 | | | 35 | 20 | 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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