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1 patient data entry collated from reference Mancuso et al, 2004a.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
202G1051R3
H932Y1
PEO, erectile dysfunction, progressive hearing loss, dysarthria, ataxic gait, Romberg sign, severe peripheral axonal sensorimotor polyneuropathy.
-movement disorder (ataxia)
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
-dysarthria
-hearing loss
juvenile
3518n/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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