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2 patient data entries in database for mutations A467T and G737R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 121 | G737R5
| A467T2
| Onset 60 years with ataxia, neuropathy, myopathy, hearing loss, cerebellar atrophy, SANDO/SCAE, PEO. | | - | movement disorder (ataxia) | |
| | 60 | n/a | n/a | Wong et al, 2008; [view data] | | 280 | G737R5
| A467T2
| progressive sensory ataxic neuropathy, ophthalmoparesis, cerebellar ataxia, limb weakness, muscle cramps, sensory hearing loss, dysarthria, dysphagia, constipation, and memory loss, brain MRI was abnormal with evidence of generalized cortical and cerebellar atrophy, evidence of a length-dependent sensory > motor polyneuropathy of axonal type, Multiple mtDNA deletions detected by PCR in blood | | - | movement disorder (ataxia) | |
| | 53 | 58 | n/a | Milone et al, 2011; [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: 2
Avg age of onset in displayed cases: 56.5
Std dev in onset in displayed cases: 3.5
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