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Mitochondrial DNA depletion syndrome 11

Summary

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). [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: C20orf72, DDK1, MTDPS11, bA504H3.4, MGME1
    Summary: mitochondrial genome maintenance exonuclease 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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