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1 patient data entry in database for clusters G737R and 3.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
61G737R5
L304R3
Muscle weakness, ptosis, ophthalmoparesis/CPEO. 61% mtDNA copy number in blood.
-muscle weakness
-ptosis
-PEO
adult
n/a54n/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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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