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2 patient data entries collated from reference Naimi et al, 2006. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 62 | W748S5
E1143G
| L304R3
| SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle. | | | n/a | 20 | 27 | | 71 | L392V
| G380D
| PEO with weakness of lower limbs, ataxia, cognitive impairment and multiple deletions in muscle. | | - | movement disorder (ataxia) | |
| | 63 | 40 | 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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