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6 patient data entries in database for the exact mutation A467T. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 242 | | A467T2
| This 64-year-old woman, the mother of the index patient, developed slowly progressive blepharoptosis at the age of 45. She underwent blepharoplasty at the age of 58. In the neurological examination at the age of 63, she had ptosis, but no other neurological deficits. Late onset ptosis. | | | 45 | 64 | n/a | Luoma et al, 2005; [view data] | | 243 | | A467T2
| This 66-year-old woman developed progressive blepharoptosis slowly at the age of 50. She underwent blepharoplasty at the age of 62, and in the same year, she suffered a transitory ischemic attack. At the age of 66, no clinical findings except ptosis were detectable. Late onset ptosis. | | | 50 | 66 | n/a | Luoma et al, 2005; [view data] | | 244 | | A467T2
| This 50-year-old woman developed progressive blepharoptosis slowly at the age of 40. She underwent blepharoplasty at the age of 47. Her neurological examination at the age of 50 was normal. Late onset ptosis | | | 40 | 50 | n/a | Luoma et al, 2005; [view data] | | 245 | | A467T2
| probable mild blepharoptosis, early onset ptosis | | | n/a | 23 | n/a | Luoma et al, 2005; [view data] | | 409 | | A467T2
| at age 24 developed PEO and weakness of neck and proximal limb muscles. presence of multiple mtDNA deleted species, unsteady, broad-based gait. At age 32 she had complete PEO, bradykinesia, cogwheel rigidity, slurred speech, dysphagia, dysmetria, positive Romberg sign, reduced arm swing, and intermittent bilateral postural-action tremor. axonal sensorimotor neuropathy, severe depression, insomnia, and nocturnal panic attacks Has also mutation ANT1 gene (V289M) | | - | axonal sensorimotor polyneuropathy | |
| | 24 | 42 | n/a | Galassi et al, 2008; [view data] | | 429 | | A467T2
| LS-like, sensorimotor neuropathy. At 56 years old, patient 13 developed a motor neuron disease with severe tetraparesis, dysphonia and respiratory insufficiency leading to death a few years later. Muscular biopsy was strongly evocative of mitochondrial disease with a generalized RC deficiency, multiple mtDNA deletions and decreased mtDNA copy number in the muscle (39%). | | | 56 | 56 | 60 | Rouzier et al, 2013; [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: 6
Number of patient cases marked as outliers: 1 (cases excluded from avg: 409)
Avg age of onset in displayed cases: 42.8
Std dev in onset in displayed cases: 11.2
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