Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

MONDO:0009783

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

Also known as: POLG autosomal recessive progressive external ophthalmoplegia, autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1, PEOB1, arPEO, autosomal recessive progressive external ophthalmoplegia, cerebellar ataxia infantile with progressive external ophthalmoplegia

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