/autosomal dominant progressive external ophthalmoplegia

/progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3

Rare Disease

MONDO:0012241

Also Known As

TWNK progressive external ophthalmoplegia with mitochondrial DNA deletionsprogressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNKprogressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3PEOA3progressive external ophthalmoplegia, autosomal dominant 3

Definition

Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene.

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Associated Genes

TWNK ↗

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

External Resources

OMIM

OMIM:609286 ↗

GARD

GARD:16499 ↗

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