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2 patient data entries in database for clusters W748S and 3 in age group "adult". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 62 | W748S5
E1143G
| L304R3
| SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle. | | | 20 | n/a | 27 | Naimi et al, 2006; [view data] | | 358 | R1096C3
| W748S5
| CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy | | | 25 | 49 | n/a | Lax et al, 2012a; [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: 22.5
Std dev in onset in displayed cases: 2.5
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