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6 patient data entries in database for clusters 1 and 5 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 146 | R852C1
G11D
| R627Q5
| Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood. | | | n/a | 25 | n/a | Tang et al, 2011; [view data] | | 155 | G848S1
| G746S5
E1143G
| Ataxia, PEO, axonal neuropathy, cerebellar atrophy. 3% COX deficient fibers. | | - | movement disorder (ataxia) | |
| - | demyelinating neuropathy | |
| | 16 | n/a | n/a | Stewart et al, 2009; [view data] | | 339 | T914P1
| W748S5
| Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis | | - | external ophthalmoplegia | |
| | 15 | n/a | n/a | Hinnell et al, 2012; [view data] | | 625 | G11D
R627Q5
| R852C1
| Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | | - | movement disorder (ataxia) | |
| | 15 | 19 | n/a | Wong et al, 2008; [view data] | | 628 | G11D
R627Q5
| R852C1
| Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | | - | movement disorder (ataxia) | |
| | 15 | n/a | n/a | Wong et al, 2008; [view data] | | 655 | V1106A1
| W748S5
| SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves. | | - | movement disorder (ataxia) | |
| | 13 | 15 | n/a | Kaliszewska et al, 2015; [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: 6
Avg age of onset in displayed cases: 16.5
Std dev in onset in displayed cases: 3.9
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