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2 patient data entries collated from reference McHugh et al, 2010. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 308 | A467T2
| A467T2
| progressive imbalance, hand and foot numbness, with impotence and dysarthria, progressive diplopia, bilateral ptosis with severe ophthalmoparesis in all directions and diplopia on lateral gaze. There was mild dysarthria and severe sensory ataxia, mild weakness in proximal and distal muscle groups, myopathy, multiple mtDNA deletions in muscle. | | - | movement disorder (ataxia) | |
| | 46 | 41 | n/a | | 309 | A467T2
| A467T2
| progressive difficulty walking, hand and foot numbness, ataxia, dysarthria, ptosis, sensory ataxia, with progressive ophthalmoplegia, dysarthria, nystagmus, dysphagia. Dysarthria became evident from age 55 years, and she developed ptosis at 62 years. | | - | movement disorder (ataxia) | |
| | 62 | 42 | 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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