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1 patient data entry collated from reference Rempe et al, 2016. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 669 | R853W1
| G737R5
| parkinsonism with dystonic toe and plantar flexion. Anxiety and generalized muscle weakness. Bilateral hypaesthesia of the lateral bottom of the foot and dorsal forefoot as well as bilateral distal pallhypaesthesia of the legs. Slight bilateral ptosis, slight axonal sensory polyneuropathy. | | | 32 | 27 | 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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