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2 patient data entries in database for clusters P587L and 4 in age group "adult".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
12T251I
P587L2
R227W4
PEO
-PEO
adult
48n/an/aHorvath et al, 2006;

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263R227W4
T251I
P587L2
PEO, bilateral ptosis, severe limita- tion of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA.
-ragged red fibers
-ptosis
-PEO
adult
48n/an/aAgostino et al, 2003;

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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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 48.0
Std dev in onset in displayed cases: 0.0

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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