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3 patient data entries collated from reference Tang et al, 2012. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 346 | R953C1
| W748S5
| Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy | | | 50 | n/a | n/a | | 347 | W748S5
S28C
| W748S5
| migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss, | | - | movement disorder (ataxia) | |
| | 25 | n/a | n/a | | 348 | A467T2
| A467T2
| ptosis, PEO, muscle weakness, fatigability, peripheral neuropathy, ataxia, lactic acidosis and diarrhea alternating with constipation, ragged-red fibers, | | - | movement disorder (ataxia) | |
| | 46 | 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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