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6 patient data entries collated from reference Taanman et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
21G848S1
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.
-ptosis
-failure to thrive
-hypotonic
-hepatomegaly
-microcephaly
infantile
n/a0.52
31E1136K1
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.
-lactic acidosis
-hepatocerebral
-jaundice
-failure to thrive
-hypotonic
-vomiting
-hepatomegaly
-hypoglycemia
-septicemia
infantile
n/a0.010.5
99T914P1
A467T2
Onset at 9 months with alpers, death at 12 months. 8% mtDNA copy number in liver, 8% mtDNA copy number in muscle.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.81
167H1110Y1
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.
-lactic acidosis
-liver failure
-hypotonic
infantile
n/a0.10.8
169G848S1
W748S5
E1143G
Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/a6.57.8
181Y831C
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.
-liver failure
-hepatocerebral
-failure to thrive
-hepatomegaly
infantile
n/a0.30.5

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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