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1 patient data entry in database for mutations T251I and K1191N.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
28K1191N1
T251I
P587L2
Stroke/ischaemic episodes, peripheral neuropathy, CPEO, abnormal EMG/NCV, ptosis, muscle weakness, headache/migraine. 167% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-PEO
-stroke
-headache/ migraine
-ischaemic episodes
adult
n/a39n/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
Mutations:
Allele 1:Allele 2:
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Use "PNF" for non-missense mutations.
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