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adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is 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.
Mondo Term and Equivalent IDs
MONDO:0018002:  adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Orphanet:329336: 
SCTID:725464001: 
UMLS:C4511138: