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1 patient data entry collated from reference Martikainen et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
518D1184H1
S998L
bilateral ptosis and external ophthalmoplegia at 64 years of age. at 67 years she was severely cognitively impaired, had severe bilateral ptosis and complete external ophthalmoplegia. Frequent cytochromecoxidase-negative fibres were detected in muscle. Electrophysiological examination revealed myopathic changes and axonal neuropathy. PEO, progressive encephalopathy.
-demyelinating neuropathy
-ptosis
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-encephalopathy
adult
6764n/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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