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3 patient data entries collated from reference Spinazzola et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 119 | R574W2
| A467T2
| Alpers. Alive at 10 years. Sister died at age 27. | | | 10 | 3 | n/a | | 164 | D930N1
| W748S5
| Onset of Alpers at 3 months, death at 19 months. Bilateral lesions of thalami. | | - | bilateral lesions of thalami | |
| | n/a | 0.3 | 1.5 | | 196 | | E895G1
| Found in one newborn with floppiness and 20% liver mtDNA depletion- Myopathic MDS. Death at 36 hours after birth. 5% mtDNA copy number in muscle, 20% mtDNA copy number in liver. | | | n/a | 0.01 | 0.02 |
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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