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8 patient data entries in database for clusters 2 and 4. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 11 | T251I
P587L2
| C224Y4
| Alpers, trunk hypotonia, seizures at 4 months, RC deficiency in liver. 28% mtDNA copy number in liver. | | | 0.3 | n/a | n/a | Sarzi et al, 2007; [view data] | | 13 | A467T2
| R227W4
| Onset at 4 months with FTT, dementia, hypotonia, seizures, myoclonus, GI problems, hepatopathy, hearing loss, delayed myelinisation. Death at 10 months | | | 0.3 | n/a | 0.8 | de Vries et al, 2007; [view data] | | 16 | A467T2
| R227P4
| Severe childhood multi-system disorder, epilepsy and failure to thrive, GI problems, hypotonia, retardation. | | | 0.5 | n/a | 1 | de Vries et al, 2007; [view data] | | 17 | A467T2
| R227P4
| FTT, died after epilepticus. | | | n/a | n/a | 1 | Blok et al, 2009; [view data] | | 19 | T251I
P587L2
| R232G4
| Alpers, epilepsy and hepatopathy, onset 5 months of age. | | | 0.5 | n/a | n/a | Ashley et al, 2008; [view data] | | 33 | R232G4
| T251I
P587L2
| Infantile hepatocerebral, presented at 3 months as hypotonia followed by mtDNA depletion in liver, dementia, and death at 6 months by ventilatory insufficiency. | | | 0.3 | n/a | 0.5 | Ferrari et al, 2005; [view data] | | 12 | T251I
P587L2
| R227W4
| PEO | | | 48 | n/a | n/a | Horvath et al, 2006; [view data] | | 263 | R227W4
| T251I
P587L2
| PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | | 48 | n/a | n/a | Agostino et al, 2003; [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: 8
Avg age of onset in displayed cases: 12.4
Std dev in onset in displayed cases: 20.6
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