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2 patient data entries collated from reference Filosto et al, 2003.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
136A889T1
R579W2
Onset at age 30 with ptosis, later development of ataxia orthostatic dizziness, cataracts, GI dysmotility with diarrhea and constipation.
-movement disorder (ataxia)
-ptosis
-GI dysmotility
-diarrhea
adult
n/a30n/a
217G1076V3
PEO at age 41, mental retardation at age 4. Progressive bilateral ptosis. Her father and paternal grandmother had long standing historier of bilaterally impaired eye movements. Patients brother and daughter (at 7) are healthy.
-ptosis
-PEO
-retardation
adult
5141n/a

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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