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GTR Home > Conditions/Phenotypes > Mitochondrial DNA deletion syndrome with progressive myopathy

Mitochondrial DNA deletion syndrome with progressive myopathy

Synonyms
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant progressive external ophthalmoplegia-6 (PEOA6) is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). [from OMIM]

Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DNA2L, RTS4, hDNA2, DNA2
    Summary: DNA replication helicase/nuclease 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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