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1 patient data entry collated from reference Adachi et al, 2002.

allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
Mother of Japanese adPEO family. The proband, 69 years female, developed bilateral blepharoptosis and external ophthalmoplegia at forty. She also had slight muscle weakness and atrophy of proximal limbs and neck. Her mother, one of her three siblings and her daughter had same symptoms. Muscle biopsy examination of her and her brother showed several ragged red fibers.
-ragged red fibers
-muscle weakness
-external ophthalmoplegia

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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