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GENATLAS PHENOTYPE

last update : 16-10-2019

Symbol	PEO5
Location	8q22.3
Name	progressive external ophthalmoplegia 5
Corresponding gene	RRM2B
Other symbol(s)	PEOA5
Main clinical features	progressive external ophthalmoplegia characterized by multiple mitochondrial DNA deletions in postmitotic tissues and respiratory-chain-deficient ragged-red fibers with abnormal mitochondria in the muscle biopsy disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)