|
4 patient data entries in database for clusters 1 and 4 in age group "infantile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 14 | D1184N1
| R227W4
| Severe childhood multi-system disorder- age of onset 4-7 months, age of death 26-43 months. Initial symptom was failure to thrive. Other symptoms included severe retardation, GI problems and hypotonia. Also hearing loss and elevated lactate in serum and CSF. Ragged red fibers were observed indicating mtDNA depletion | | | 0.5 | n/a | 2 | de Vries et al, 2007; [view data] | | 15 | G848S1
| R227W4
| Born with severe hypotonia, general muscle weakness, hearing loss, GI problems, mild cerbral atrophy, mtDNA depletion in muscle and GI, death via respiratory failure at 20 days. | | | 0.01 | n/a | 0.1 | Giordano et al, 2009; [view data] | | 21 | G848S1
| R232H4
| Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver. | | | 0.5 | n/a | 2 | Taanman et al, 2009; [view data] | | 336 | R227W4
| G848S1
| Complex I deficiency, Hypotonia, lethargy, respiratory distress, metabolic acidosis, FTT, encephalopathy | | | 0.01 | 0.06 | n/a | Calvo et al, 2012; [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: 0.3
Std dev in onset in displayed cases: 0.2
|