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3 patient data entries in database for clusters 3 and 3 in age group "adult".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
69W312R3
W312R3
PEO, sensory-motor polyneuropathy, dysphagia.
-polyneuropathy
-sensomotor neuropathy
-PEO
-dysphagia
adult
57n/an/aDi Fonzo et al, 2003;

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598G268A3
G268A3
PEO, complicated by dysphagia, my- opathy, neuropathy pigmentary retinopathy and amenorrhea.
-PEO
-dysphagia
adult
n/a32n/aDel Bo et al, 2003;

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599W312R3
W312R3
PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia.
-polyneuropathy
-axonal sensorimotor polyneuropathy
-myopathy
-PEO
-dysphagia
adult
n/a57n/aDel Bo 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: 3
Avg age of onset in displayed cases: 48.7
Std dev in onset in displayed cases: 11.8

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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