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7 patient data entries in database for mutation P1073L. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 91 | P1073L3
| A467T2
| Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss. | | | 0.01 | n/a | 0.8 | Kurt et al, 2010; [view data] | | 92 | P1073L3
| A467T2
| Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy. | | | 0.01 | n/a | 3 | Kurt et al, 2010; [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] | | 183 | P1073L3
| G848S1
| pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis. | | | 0.4 | n/a | 0.9 | Kurt et al, 2010; [view data] | | 184 | P1073L3
| G848S1
| Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood. | | | n/a | 2 | n/a | Tang et al, 2011; [view data] | | 430 | | P1073L3
| Myopathy, myoclonic epilepsy, renal tubulopathy, muscle weakness, amyotrophy, myoclonic epilepsy and lipid accumulation. Cerebrospinal fluid and blood lactate concentrations were elevated. Muscle biopsy showed lipid myopathy with no biochemical RC deficiency and neither depletion nor deletions of mtDNA. | | | 5 | n/a | n/a | Rouzier et al, 2013; [view data] | | 660 | P1073L3
| S305R3
| Alpers | | | 0.75 | n/a | 2 | Baruffini et al, 2011; [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
Avg age of onset in displayed cases: 1.2
Std dev in onset in displayed cases: 1.7
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