Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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Name:
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Description:
A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.
ORPHAcode:
329336
Synonyms:
Adult-onset CPEO with mitochondrial myopathy
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Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14