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3 patient data entries in database for mutation R309C. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 418 | R309C3
| R309C3
| Peripheral neuropathy, PEO, ataxia, myopathy, fatty liver, pigmentary neuropathy, strokes, epilepsy, dysarthria-dysphonia | | - | movement disorder (ataxia) | |
| | 14 | n/a | 22 | Amiot et al, 2009; [view data] | | 651 | R309C3
| R290C
| SANDO. From the age of 31, she suffered from progressive external ophthalmoplegia, ptosis, dysarthria, weakness of upper and lower limbs and sensory ataxic neuropathy. Additionally, mental retardation was diagnosed. Nerve conduction studies indicated axonal sensory and motor neuropathy. MRI showed brain atrophy. Skeletal muscle biopsy disclosed ragged-red fibres. Analysis of mitochondrial DNA revealed multiple deletions in muscle tissue. Patient has a brother with same alleles and similar clinical history. Asymptomatic son with R309C. | | - | external ophthalmoplegia | |
| | 31 | 54 | n/a | Kaliszewska et al, 2015; [view data] | | 691 | W748C5
| R309C3
| mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). She first presented at 10 y with sudden onset of headache, repeated focal seizures and visual loss, complicated with residual sensory neuropathy and motor neuropathy, ophthalmoparesis (ophthalmoplegia) and cortical blindness. Extensive cytotoxic edema and ischemia in bilateral parietal–occipital lobes. recurrent seizure attacks and hemiparesis. | | | 10 | 18 | n/a | Lam et al, 2015; [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: 18.3
Std dev in onset in displayed cases: 9.1
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