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1 patient data entry collated from reference McKelvie et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 446 | H277L3
| A862T1
| Ataxia, sensory ataxic neuropathy, with cerebellar features, visual disturbances with diplopia, dysarthria and dysphasia. Multiple mtDNA seletions, COX-negative fibers and ragged red fibers were found in autopsy. Areflexic, absent reflexes, in all limbs, distal weakness and distal sensory loss of proprioception and vibration. She became encephalopathic and febrile. | | - | movement disorder (ataxia) | |
| | 54 | 46 | 66 |
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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