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6 patient data entries in database for mutation S511N. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 509 | | S511N2
| PEO, Ptosis, limb ataxia and progressive hearing loss. On examination, she had prominent ptosis, mild bilateral facial weakness, symmetric hip flexion weakness, and absent lower limb tendon reflexes with a mild gait ataxia. axonal sensory neuropathy with additional myopathic features. Muscle biopsy revealed an increased range of muscle fiber diameters, 20% being cytochrome c oxidase–deficient. | | - | movement disorder (ataxia) | |
| | 40 | 61 | n/a | Hudson et al, 2007; [view data] | | 510 | L463F2
| S511N2
| Presented with fatigue and was noted to have bilateral ptosis since the age of 46 years. He subsequently developed an unsteady gait, progressive deafness, and dysphagia. Extrapyramidal features were first noted 2 years later, at age 48 years, and they progressed until his symptoms improved after receiving ropinirole. He had a history of depression. On examination, he walked with a stooped posture and a shuffling gait with limited arm-swing, slow turning, and postural instability. He had symmetric bradykinesia but no tremor. He had an expressionless face and hypophonia with bilateral ptosis and ophthalmoplegia with relative sparing of downgaze. There were mild symmetric proximal muscle weakness, absent lower limb reflexes, and mild gait ataxia. Parkinsons. | | - | movement disorder (ataxia) | |
| | 46 | 52 | n/a | Hudson et al, 2007; [view data] | | 511 | | S511N2
| bilateral ptosis. | | | n/a | 60 | n/a | Hudson et al, 2007; [view data] | | 512 | | S511N2
| bilateral ptosis. | | | n/a | 65 | n/a | Hudson et al, 2007; [view data] | | 513 | | S511N2
| bilateral ptosis. | | | n/a | 58 | n/a | Hudson et al, 2007; [view data] | | 514 | | S511N2
| progressive bilateral ptosis in her early 20s followed by external ophthalmoplegia. She came to medical attention through an infertility clinic investigating her primary ovarian failure. | | - | external ophthalmoplegia | |
| | 20 | 30 | n/a | Hudson et al, 2007; [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
Avg age of onset in displayed cases: 48.2
Std dev in onset in displayed cases: 15.2
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