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3 patient data entries collated from reference Van Goethem et al, 2003a. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 59 | A467T2
| L304R3
| myopathy, PEO, dysarthria. | | | n/a | 16 | 37 | | 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | n/a | 25 | n/a | | 210 | | Y955C1
| CPEO, myopathy. Muscle biopsy showed RRF, multiple mtDNA deletions. Age of onset for three alcoholics ranged from 25-39, and age of death ranged from 54-65. | | | n/a | 25 | 54 |
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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