/autosomal dominant progressive external ophthalmoplegia

/progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Rare Disease

MONDO:0024528

Also Known As

PEOA1POLG autosomal dominant progressive external ophthalmoplegiaautosomal dominant progressive external ophthalmoplegia caused by mutation in POLGprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1progressive external ophthalmoplegia, autosomal dominant 1

Definition

Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.

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Associated Genes

POLG ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:157640 ↗

GARD

GARD:13174 ↗

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