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20 patient data entries collated from reference Luoma et al, 2004.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
482N468D2
A1105T1
Ptosis, PEO, Cataracts, sensory axonal neuropathy, moderate motor neuropathy, rigidity, bradykinesia, resting tremor, Parkinsons, muscle weakness.
-demyelinating neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
493051
483N468D2
A1105T1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, Excercise intolerance, muscle pain, sensory axonal neuropathy, Parkinsons
-demyelinating neuropathy
-ptosis
-PEO
-parkinson's disease
-tremor
adult
4021n/a
484N468D2
A1105T1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, general fatigue, muscle weakness, periodic depression, parkinsons, premature menopause.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
5032n/a
485Y955C1
Resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, periodic depression, dementia, cataracts, Parkinsons.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-dementia
-tremor
childhood
581065
486Y955C1
ptosis, weak achilles tendon reflexes
-ptosis
adult
3833n/a
487Y955C1
Parkinsons, rigidity, bradykinesia, ptosis, PEO, muscle weakness, hypoacusia, premature menopause.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
adult
6730n/a
488Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, Cataracts, presbyacusis, ataxia, premature menopause, neuropathy.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
602261
489Y955C1
PEO, Parkinsons, rigidity, bradykinesia, ptosis, muscle weakness, cataracts, ataxia.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
adult
6035n/a
490Y955C1
PEO, Parkinsons, rigidity, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, ataxia.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
582560
491Y955C1
PEO, Primary amenorrhea, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, muscle weakness, mental retardation, cataracts, ataxia, head tremor
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-retardation
-tremor
adult
6423n/a
492Y955C1
PEO, premature menopause, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, cataracts, ataxia.
-movement disorder (ataxia)
-ptosis
-PEO
-parkinson's disease
-tremor
adult
6221n/a
493Y955C1
PEO, ptosis, muscle weakness
-muscle weakness
-ptosis
-PEO
adult
3323n/a
494Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, Neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
5049n/a
495Y955C1
Parkinsons, resting tremor, ptosis, PEO, Muscle weakness, cataracts, Neuropathy
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
7430n/a
496Y955C1
Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, cataracts, Neuropathy.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
7349n/a
497Y955C1
Ptosis, PEO, Exercise intolerance, pigmentary retinopathy, neuropathy
-exercise intolerance
-ptosis
-PEO
adult
3028n/a
498Y955C1
PEO, ptosis, cataracts, rheumatoid arthritis, cardiac failure
-ptosis
-PEO
adult
n/a4067
499Y955C1
PEO, premature menupause, ptosis, muscle weakness, cataracts
-muscle weakness
-ptosis
-PEO
adult
5230n/a
500R953C1
PEO, ptosis, muscle weakness, hypothyreosis, ataxia, asthma, balance disturbance.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
adult
2922n/a
501A1105T1
PEO, premature menopause, Parkinsons, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, goitre, head tremor.
-muscle weakness
-ptosis
-PEO
-parkinson's disease
-tremor
adult
7542n/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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