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1 patient data entry collated from reference Invernizzi et al, 2008.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
76W918R1
M430L1
PEO, muscle weakness, and later onset levodopa-responsive pseudo-orthostatic tremor with Parkinsonism.
-muscle weakness
-PEO
-parkinson's disease
-tremor
adult
n/a30n/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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