Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4

Definition

A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1.

Synonyms

adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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