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2 patient data entries collated from reference Martikainen et al, 2016.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
666Splice site
mutation:
c.1250+5G>C
A467T2
Parkinsons, PEO, short-term memory problems, general cerebral and cerebellar atrophy.
-cerebellar atrophy
-PEO
-parkinson's disease
adult
8150n/a
667Y955C1
Parkinsonism, restless legs syndrome. Good response to levodopa and ropinirole. PEO, cerebellar ataxia, neuropathy, myopathy, sensorineural hearing loss.
-cerebellar ataxia
-movement disorder (ataxia)
-myopathy
-PEO
-parkinson's disease
-hearing loss
adult
6340n/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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