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6 patient data entries collated from reference Taanman et al, 2009. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 21 | G848S1
| R232H4
| Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver. | | | n/a | 0.5 | 2 | | 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. | | | n/a | 0.01 | 0.5 | | 99 | T914P1
| A467T2
| Onset at 9 months with alpers, death at 12 months. 8% mtDNA copy number in liver, 8% mtDNA copy number in muscle. | | | n/a | 0.8 | 1 | | 167 | H1110Y1
Q1236H
| W748S5
E1143G
| Hypotonia at 8 weeks, seizures, hepatopathy, lactic acidemia, died of liver failure. 9% mtDNA copy number in muscle, 11% mtDNA copy number in liver. | | | n/a | 0.1 | 0.8 | | 169 | G848S1
| W748S5
E1143G
| Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver. | | | n/a | 6.5 | 7.8 | | 181 | Y831C
| H1134R1
| Anorexia, FTT, drowsiness, hepatomegaly, peripheral odema, liver failure. Onset at 3 months with infantile hepatocerebral mtDNA depletion. Death at 6 months. Asymptomatic mother and father. | | | n/a | 0.3 | 0.5 |
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.
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