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5 patient data entries in database for mutations A467T and L304R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 59 | A467T2
| L304R3
| myopathy, PEO, dysarthria. | | | 16 | n/a | 37 | Van Goethem et al, 2003a; [view data] | | 60 | A467T2
| L304R3
| sensory ataxic neuropathy, PEO, dysarthria. | | | 25 | n/a | n/a | Van Goethem et al, 2003a; [view data] | | 569 | L304R3
| A467T2
| psychiatric symptoms, ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, areflexia. | | | 16 | 28 | n/a | Van Goethem et al, 2001; [view data] | | 570 | L304R3
| A467T2
| ocular symptoms, psychiatric symptoms, ptosis, opthalmoplegia, muscle weakness, distal sensory neuropathy, areflexia, pes cavus. | | | 25 | 38 | n/a | Van Goethem et al, 2001; [view data] | | 571 | L304R3
| A467T2
| ocular symptoms, ptosis, opthalmoplegia, dysphagia, muscle weakness, areflexia, retinopathy. | | | 24 | 34 | n/a | Van Goethem et al, 2001; [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: 5
Avg age of onset in displayed cases: 21.2
Std dev in onset in displayed cases: 4.3
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