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GENATLAS PHENOTYPE

last update : 16-10-2019

Symbol	PEO2
Location	4q35.1
Name	progressive external ophthalmoplegia 2
Corresponding gene	SLC25A4
Other symbol(s)	PEO3, PEOA2
Main clinical features	exercise intolerance, ptosis and muscle weakness (PMID: 21586654)) associated to proximal myopathy with ragged-red fibers and reduction in activity of respiratory chain enzyme or childhood onset, isolated, slowly progressive myopathy with hypertrophic cardiomyopathy progressive external ophthalmoplegia characterized by multiple mitochondrial DNA deletions in skeletal muscle, including adult onset of weakness of the external eye muscles and exercise intolerance
Genetic determination	autosomal dominant
	autosomal recessive
Function/system disorder	eye
Type	disease

Gene product

Name	solute carrier family 25 member 4

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown		abnormal protein/loss of function	A123D associated to isolated, early onset myopathy with cardiomyopathy

Remark(s)

with multiples deletions of mitochondrial DNA mutation causes dominant mitochondrial defects characterized by decreased ADP–ATP exchange function and abnormal translocator reversal potential (PMID: 21586654))