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1 patient data entry collated from reference Mancuso et al, 2004b. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 236 | | Y831C
| Presented with progressive bilateral ptosis, diplopia, muscle weakness, and exercise intolerance at 28 years of age. Ophthalmoplegia and severe bilateral ptosis developed by age 44, sensory neuropathy at age 45, and at age 47 she developed slowly progressive resting hand tremor, slowing of her gait, bradykinesia, rigidity, and slurred speech. Muscle biopsy showed numerous ragged-red fibers and Southern blot analysis showed multiple deletions of mtDNA. insipient parkinsonism. | | | 49 | 28 | 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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