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3 patient data entries collated from reference Ylönen et al, 2013.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
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
6549n/a
585R993C
W748S5
E1143G
late-onset parkinsons. Tremor. Cardiac arrhythmia.
-parkinson's disease
-arrhythmia
-tremor
adult
n/a72n/a
586R722H
Y831C
late onset parkinsons. Tremor. Hyperreflexia.
-parkinson's disease
-tremor
adult
n/a56n/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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