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

Summary

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

32 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

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

Clinical features

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