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5 patient data entries collated from reference Hanisch et al, 2014. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 503 | R869Q1
| P587L2
T251I
| Pareses, ptosis, ataxia, sensory neoropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 34 | 29 | n/a | | 504 | A467T2
| A467T2
| Ataxia, ptosis, pareses, sensory neuropathy, motor neuropathy, axonal neuropathy | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 40 | 38 | n/a | | 505 | W748S5
| A467T2
| Ataxia, ptosis, pareses, diabetes, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 56 | 49 | n/a | | 506 | W748S5
| A467T2
| Ataxia, ptosis, mild cognitive impairment, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 45 | 41 | n/a | | 507 | R627Q5
| A467T2
| Ataxia, ptosis, myalgia, sensory neuropathy, motor neuropathy, axonal neuropathy, demyelinating neuropathy. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 50 | 46 | 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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