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1 patient data entry in database for mutations W748S and G888D.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Seizures, ptosis, hepatic failure, ketosis, lactic acidosis, organic aciduria/tiglyglycine, elevated pyruvate, microcephaly, abnormal MRI. 33% mtDNA copy number in muscle, 46% mtDNA copy number in blood, ETC low.
-lactic acidosis
-liver failure
n/a2n/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
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Use "PNF" for non-missense mutations.
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