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1 patient data entry collated from reference Galassi et al, 2008. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 409 | | A467T2
| at age 24 developed PEO and weakness of neck and proximal limb muscles. presence of multiple mtDNA deleted species, unsteady, broad-based gait. At age 32 she had complete PEO, bradykinesia, cogwheel rigidity, slurred speech, dysphagia, dysmetria, positive Romberg sign, reduced arm swing, and intermittent bilateral postural-action tremor. axonal sensorimotor neuropathy, severe depression, insomnia, and nocturnal panic attacks Has also mutation ANT1 gene (V289M) | | - | axonal sensorimotor polyneuropathy | |
| | 42 | 24 | 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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