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7 patient data entries in database for cluster 5. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 404 | W748S5
E1143G
| | Onset with walking difficulties, seizures at 2.5 years, hepatocellular insufficiency after valproate treatment, alpers syndrome, Liver mtDNA depletion. | | | 2 | n/a | 3 | Sarzi et al, 2007; [view data] | | 298 | W748S5
E1143G
| R722H
| mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed. | | | 11 | 22 | n/a | Komulainen et al, 2010; [view data] | | 246 | | R627Q5
Q1236H
| displays mild bilateral blepharoptosis and slight unsteadiness during tandem gait. Early onset ptosis, ataxia | | - | movement disorder (ataxia) | |
| | n/a | 19 | n/a | Luoma et al, 2005; [view data] | | 241 | | R627Q5
Q1236H
| Developed bilateral blepharoptosis in his youth. Neurological examination at the age of 72 showed severe blepharoptosis, lids almost covering his entire pupils. Eye movements were normal, his muscle strength and sensation were good and tendon reflexes were normal, but his gait was unsteady. Early onset ptosis, ataxia | | - | movement disorder (ataxia) | |
| | 22 | 73 | n/a | Luoma et al, 2005; [view data] | | 401 | | W748S5
E1143G
| Presented with epilepsy, ataxia, nystagmus, neuropathy, ptosis/ PEO onset at age 65 | | - | movement disorder (ataxia) | |
| | 55 | 74 | n/a | Tzoulis et al, 2006; [view data] | | 453 | | W748S5
E1143G
| No neurological symptoms, but type-2 diabetes and hypertension. | | | n/a | 63 | n/a | Palin et al, 2012; [view data] | | 585 | R993C
| W748S5
E1143G
| late-onset parkinsons. Tremor. Cardiac arrhythmia. | | | 72 | n/a | n/a | Ylönen et al, 2013; [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: 7
Number of patient cases marked as outliers: 1 (cases excluded from avg: 404)
Avg age of onset in displayed cases: 40.3
Std dev in onset in displayed cases: 23.7
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