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- W4321380595 endingPage "21" @default.
- W4321380595 startingPage "9" @default.
- W4321380595 abstract "Progressive external ophthalmoplegia (PEO), characterized by ptosis and impaired eye movements, is a clinical syndrome with an expanding number of etiologically distinct subtypes. Advances in molecular genetics have revealed numerous pathogenic causes of PEO, originally heralded in 1988 by the detection of single large-scale deletions of mitochondrial DNA (mtDNA) in skeletal muscle of people with PEO and Kearns-Sayre syndrome. Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO). Intriguingly, many of those nuclear DNA pathogenic variants impair maintenance of the mitochondrial genome causing downstream mtDNA multiple deletions and depletion. In addition, numerous genetic causes of nonmitochondrial PEO have been identified." @default.
- W4321380595 created "2023-02-21" @default.
- W4321380595 creator A5005856741 @default.
- W4321380595 creator A5065093217 @default.
- W4321380595 date "2023-01-01" @default.
- W4321380595 modified "2023-10-13" @default.
- W4321380595 title "Progressive external ophthalmoplegia" @default.
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