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4 patient data entries in database for clusters W748S and 3. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 159 | R807C3
| W748S5
E1143G
| epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle. | | | 1 | n/a | 3 | Isohanni et al, 2011; [view data] | | 177 | P1073L3
| W748S5
| Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation. | | | 0.01 | n/a | 13 | Kurt et al, 2010; [view data] | | 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: 4
Avg age of onset in displayed cases: 11.5
Std dev in onset in displayed cases: 11.1
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