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GTR Home > Conditions/Phenotypes > Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Synonyms
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 4; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions-4 (PEOB4) is an autosomal recessive disorder 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

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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