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GTR Home > Conditions/Phenotypes > Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4

Summary

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is characterized by adult onset of eye muscle weakness and proximal limb muscle weakness associated with deletions of mtDNA on skeletal muscle biopsy, which results from defective mtDNA replication in post-mitotic muscle tissue. Additional features are more variable (summary by Ronchi et al., 2012). For a discussion of genetic heterogeneity of autosomal recessive PEO, see PEOB1 (258450). [from OMIM]

Available tests

27 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: MTDPS3, NCPH, NCPH1, PEOB4, dGK, DGUOK
    Summary: deoxyguanosine kinase

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