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1 patient data entry in database for mutations R807C and E1143G.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
159R807C3
W748S5
E1143G
epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.
-status epilepticus
-myoclonic seizures
-epilepsy
-epilepsia partialis
-liver failure
-pschomotor regression
-lowered consciousness
-vomiting
infantile
1n/a3Isohanni 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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