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5 patient data entries in database for clusters P587L and 1 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 | | | 29 | K1191R1
| T251I
P587L2
| Developmental delay/dementia, liver dysfunction, lactic acidosis, fatigue, pancreatitis, cyclic vomiting. | | | 1 | n/a | n/a | Wong et al, 2008; [view data] | | 31 | E1136K1
| T251I
P587L2
| Vomiting, FTT, hypotonic, lactic acidemia, hypoglycemia, bilateral dense cataracts, hepatomegaly, jaundice, septicemia. infantile hepatocerebral mtDNA depletion. Mother with E1136K allele reported as asymptomatic. Father with T251I/P587L allele reported as asymptomatic. | | | 0.01 | n/a | 0.5 | Taanman et al, 2009; [view data] | | 49 | R853Q1
| T251I
P587L2
| Developmental delay, dementia, lactic acidosis, microcephaly, FTT, hearing loss, abnormal MRI. | | | n/a | 0.2 | n/a | Wong et al, 2008; [view data] | | 284 | K1191R1
| T251I
P587L2
| Presented with feeding difficulties and hypotonia, At 4.5 months of age the patient contracted an influenza A infection. Concurrently she experienced hepatomegaly associated with severe hypoglycemia, Abnormalities in liver synthetic function, elevations in liver hepatocellular enzymes, elevated cerebrospinal fluid (CSF) protein, severely reduced mtDNA (3%) in liver. liver failure. She showed signs of ongoing respiratory difficulty, pancreatitis, and renal tubulopathy | | | 0.166 | 0.416 | 0.458 | Lutz et al, 2009; [view data] | | 639 | G848S1
| T251I
P587L2
| Alpers | | | 0.5 | n/a | n/a | Wong et al, 2008; [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: 5
Avg age of onset in displayed cases: 0.4
Std dev in onset in displayed cases: 0.4
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