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1 patient data entry collated from reference Giordano et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 502 | H932Y1
| R386C
| Isolated distal myopathy of the upper extremities, cytochrome c oxidase deficient fibers, muscle weakness. mtDNA depletion. Reduced Deep tendon reflexes in the upper extremities. | | | 27 | 24 | 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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