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6 patient data entries in database for clusters A467T and 1 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 4 | A467T2
| F88L1
| Clinical indications reported as N/A only information provided is age of patient and 71% mtDNA copy number in blood. | | | n/a | 42 | n/a | Tang et al, 2011; [view data] | | 9 | A467T2
| A143V1
| Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | - | movement disorder (ataxia) | |
| | n/a | 49 | n/a | Tang et al, 2011; [view data] | | 128 | R1138C1
| A467T2
| Onset 48 years with neuropathy, myopathy, SANDO, lactic acidosis PEO. | | | 48 | n/a | n/a | Wong et al, 2008; [view data] | | 227 | A467T2
| S1104C1
| PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 48 | n/a | n/a | Agostino et al, 2003; [view data] | | 276 | R1138C1
| A467T2
| Bilateral ptosis, distal lower limbs paresthesias, dysphagia, imbalance, inattention, ophthalmoparesis, Multiple mtDNA deletions detected by PCR in blood and muscle | | | 46 | 54 | n/a | Milone et al, 2011; [view data] | | 419 | M919T1
| A467T2
| Peripheral neuropathy, PEO, ataxia | | - | movement disorder (ataxia) | |
| | 23 | 41 | n/a | Amiot et al, 2009; [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: 42.7
Std dev in onset in displayed cases: 9.1
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