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2 patient data entries collated from reference Echaniz-Laguna et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 291 | T914A1
| Y452C
| presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, multiple mtDNA deletions in muscle | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 56 | 37 | n/a | | 292 | R275Q3
| A467T2
| presented with blurred vision, elevated CSF protein, she successively developed various neurological signs, ie, bilateral external ophthalmoplegia, ataxia, hearing impairment, and severe depression, ptosis, myopathy, cardiomyopathy, and dysphagia, Muscle biopsy performed at 63 years of age showed numerous ragged-red fibers and multiple mtDNA deletions | | - | movement disorder (ataxia) | |
| - | external ophthalmoplegia | |
| | 63 | 30 | 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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