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5 patient data entries collated from reference Kollberg et al, 2005. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 239 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | 55 | 55 | n/a | | 247 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | 53 | n/a | n/a | | 248 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | 60 | n/a | n/a | | 249 | | Y955C1
| adPEO, multiple mtDNA deletions in muscle tissue. | | | 60 | n/a | n/a | | 250 | G848S1
| T251I
P587L2
| PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue. | | | 75 | 55 | 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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