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GTR Home > Conditions/Phenotypes > Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2

Synonyms
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2

Summary

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-2 (PEOB2) is a mitochondrial disorder characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia, such as impaired gait and dysarthria. Some patients may have respiratory insufficiency. Laboratory studies are consistent with a defect in mtDNA replication (summary by Reyes et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: H1RNA, PEOB2, RNH1, RNASEH1
    Summary: ribonuclease H1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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