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5 patient data entries collated from reference Woodbridge et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 350 | T851A1
| P163S
| CPEO, Seizures, neuropathy, ataxia, dysphagia/ dysarthria, bowel pseudo-obstruction, | | - | movement disorder (ataxia) | |
| | n/a | 21 | n/a | | 351 | T851A1
| N468D2
| CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation, | | - | movement disorder (ataxia) | |
| | 49 | n/a | n/a | | 352 | | Y831C
| CPEO, Seizures, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastric and small bowel dysmotility after a colectomy, and multiple admissions for recurrent pseudo-obstruction, proximal myopathy, | | - | movement disorder (ataxia) | |
| | 34 | n/a | n/a | | 353 | | Y831C
| Seizures, liver function tests change, migraine, increasing proximal weakness and myalgia, mild asymmetrical ptosis | | | 46 | n/a | n/a | | 354 | | G517V2
| neuropathy, dysphagia/ dysarthria, slowly progressive ataxia, hearing loss, slow gastrointestinal transit times, proximal myopathy. Patient #5. | | - | movement disorder (ataxia) | |
| | 56 | n/a | n/a |
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.
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