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1 patient data entry in database for mutations A467T and L1113P.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Encephalopathy, seizures, pancreatitis, hepatic failure, elevated transaminases, respiratory deficiency/failure, lactic acidosis, mycoplasma infection, pentobarbital induced liver failure. 57% mtDNA copy number in muscle, 78% mtDNA copy number in blood, Complex IV 20%.
-lactic acidosis
-liver failure
-respiratory deficiency
n/a1n/aTang et al, 2011;

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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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Mutations Entry IDs Clusters Reference Residue range
Allele 1:Allele 2:
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Use "PNF" for non-missense mutations.
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