autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2

Term ID

DOID:0111515

Synonyms

• adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
• adult-onset CPEO with mitochondrial myopathy
• autosomal recessive progressive external ophthalmoplegia 2
• PEOB2

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. https://www.ncbi.nlm.nih.gov/pubmed/26094573

References

• OMIM:616479
• ORDO:329336

Ontology

Human Disease   ( DOID:0111515 )