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1 patient data entry collated from reference Martikainen et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 518 | D1184H1
| S998L
| bilateral ptosis and external ophthalmoplegia at 64 years of age. at 67 years she was severely cognitively impaired, had severe bilateral ptosis and complete external ophthalmoplegia. Frequent cytochromecoxidase-negative fibres were detected in muscle. Electrophysiological examination revealed myopathic changes and axonal neuropathy. PEO, progressive encephalopathy. | | - | demyelinating neuropathy | |
| - | external ophthalmoplegia | |
| | 67 | 64 | 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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