Disease

autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Definition

A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3.

Synonyms

adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
adult-onset CPEO with mitochondrial myopathy

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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