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3 patient data entries in database for clusters 2 and 3 in age group "juvenile". 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] | | 355 | R1096C3
| A467T2
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change | | | 17 | 42 | n/a | Lax et al, 2012a; [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] |
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: 3
Avg age of onset in displayed cases: 16.3
Std dev in onset in displayed cases: 0.5
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