Article

Mutations Causative of CPEO Differentially Engage Innate Immunity Sensors

2026-05-25

Abstract excerpt

Chronic Progressive External Ophthalmoplegia (CPEO) is a primary mitochondrial disorder (PMD) caused by mutations in nuclear genes encoding mitochondrial DNA (mtDNA) maintenance proteins. CPEO is characterized by mtDNA depletion and deletions, and patients primarily present with ocular and muscular features (isolated CPEO). However, additional encephalomyopathy, neurological complications, and Parkinsonism can dri...

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Literature Corpus work: 9ec4c26c-1628-5d5c-af87-7e0dcd4ec92a
DOI: 10.64898/2026.05.24.727547

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