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POLG

MIM.174763 15q25

mitochondrial polymerase gamma (POLG)

 

Defects of mitochondrial polymerase gamma (POLG) have been found to underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome.

Pathology

-  autosomal dominant progressive external ophthalmoplegia type A1 (autosomal dominant PEOA1) (MIM.157640)
-  sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) (MIM.607459)
-  Alpers syndrome (MIM.203700)



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