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1 patient data entry in database for clusters A467T and 2 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 | | | 120 | R597W2
| A467T2
| Dementia/encephalopathy, ataxia, peripheral neuropathy, ptosis, abnormal muscle histology, abnormal muscle ultrastructure, abnormal respiratory enzyms, large mitochondrial/ proliferation, COX deficiency, ragged red fibers. 100% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| - | abnormal muscle histology | |
| - | abnormal muscle ultrastructure | |
| | n/a | 26 | n/a | Tang et al, 2011; [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.
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