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20 patient data entries collated from reference Luoma et al, 2004. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 482 | N468D2
| A1105T1
| Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness. | | - | demyelinating neuropathy | |
| | 49 | 30 | 51 | | 483 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons | | - | demyelinating neuropathy | |
| | 40 | 21 | n/a | | 484 | N468D2
| A1105T1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause. | | | 50 | 32 | n/a | | 485 | | Y955C1
| Resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, periodic depression, dementia, cataracts, Parkinsons. | | | 58 | 10 | 65 | | 486 | | Y955C1
| ptosis, weak achilles tendon reflexes | | | 38 | 33 | n/a | | 487 | | Y955C1
| Parkinsons, rigidity, bradykinesia, ptosis, PEO, muscle weakness, hypoacusia, premature menopause. | | | 67 | 30 | n/a | | 488 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, Cataracts, presbyacusis, ataxia, premature menopause, neuropathy. | | - | movement disorder (ataxia) | |
| | 60 | 22 | 61 | | 489 | | Y955C1
| PEO, Parkinsons, rigidity, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 60 | 35 | n/a | | 490 | | Y955C1
| PEO, Parkinsons, rigidity, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 58 | 25 | 60 | | 491 | | Y955C1
| PEO, Primary amenorrhea, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, muscle weakness, mental retardation, cataracts, ataxia, head tremor | | - | movement disorder (ataxia) | |
| | 64 | 23 | n/a | | 492 | | Y955C1
| PEO, premature menopause, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, cataracts, ataxia. | | - | movement disorder (ataxia) | |
| | 62 | 21 | n/a | | 493 | | Y955C1
| PEO, ptosis, muscle weakness | | | 33 | 23 | n/a | | 494 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, Neuropathy | | | 50 | 49 | n/a | | 495 | | Y955C1
| Parkinsons, resting tremor, ptosis, PEO, Muscle weakness, cataracts, Neuropathy | | | 74 | 30 | n/a | | 496 | | Y955C1
| Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, cataracts, Neuropathy. | | | 73 | 49 | n/a | | 497 | | Y955C1
| Ptosis, PEO, Exercise intolerance, pigmentary retinopathy, neuropathy | | | 30 | 28 | n/a | | 498 | | Y955C1
| PEO, ptosis, cataracts, rheumatoid arthritis, cardiac failure | | | n/a | 40 | 67 | | 499 | | Y955C1
| PEO, premature menupause, ptosis, muscle weakness, cataracts | | | 52 | 30 | n/a | | 500 | | R953C1
| PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance. | | - | movement disorder (ataxia) | |
| | 29 | 22 | n/a | | 501 | | A1105T1
| PEO, premature menopause, Parkinsons, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, goitre, head tremor. | | | 75 | 42 | 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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