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1 patient data entry in database for mutations A957V and C1077G.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
211C1077G3
A957V1
Developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, elevated transaminases, FTT, abnormal EEG. 81% mtDNA copy number in muscle, 27% mtDNA copy number in blood.
-myoclonic seizures
-failure to thrive
-hypotonic
-encephalopathy
-developmental delay
-dementia
infantile
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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