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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease chronic progressive external ophthalmoplegia
Comorbidity C0442874|neuropathy
Sentences 1
PubMedID- 25820230 Interpretation: the association of cpeo and parkinsonism/dementia with subclinical optic neuropathy widens the phenotypic spectrum of opa1 mutations, highlighting the association of defective mitochondrial dynamics, mtdna multiple deletions, and altered mitophagy with parkinsonism.

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