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3 patient data entries in database for mutations N468D and A1105T. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 482 | N468D2
| A1105T1
| Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness. | | - | demyelinating neuropathy | |
| | 30 | 49 | 51 | Luoma et al, 2004; [view data] | | 483 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons | | - | demyelinating neuropathy | |
| | 21 | 40 | n/a | Luoma et al, 2004; [view data] | | 484 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause. | | | 32 | 50 | n/a | Luoma et al, 2004; [view data] |
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. Number of displayed patient cases: 3
Avg age of onset in displayed cases: 27.7
Std dev in onset in displayed cases: 4.8
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