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1 patient data entry in database for mutations P587L and R309L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
603R309L3
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
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