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2 patient data entries in database for mutations T251I and W748S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
35W748S5
T251I
P587L2
PEO, ptosis, muscle fatigue, diplopia, a mild external ophthalmoplegia affecting horizontal, but not vertical gaze. Tendonreflexes were diminished in the lower extremities and a distal sensory defect in stocking distribution was seen.
-ptosis
-PEO
-ophthalmoplegia
-diplopia
-external ophthalmoplegia
adult
4550n/aTzoulis et al, 2009;

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584W748S5
E1142G
T251I
P587L2
Akinetic-rigid Parkinsons. impaired balance, freezing, and increased salivation. Constipation and muscle cramps. He had arterial hypertension and mild normocytic anemia. cytochrome c oxidase-negative muscle fibers.
-parkinson's disease
adult
4965n/aYlönen et al, 2013;

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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: 47.0
Std dev in onset in displayed cases: 2.0

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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